She became pale and sweaty with hypothermia (33.5°C), bradycardia (45 bpm), and acidosis and presented a generalized seizure. [ncbi.nlm.nih.gov]

At presentation, he had an exacerbation of diarrhoeal symptoms resulting in dehydration and malnutrition with a concurrent severe chest infection. [hkmj.org]

Clinical description AADC deficiency typically presents in infancy with muscular hypotonia, oculogyric crises, and developmental delay. [orpha.net]

• Developmental Delay

  The older sister experienced some marked developmental delay; she first rolled over at age 9 months, and started walking unsupported just before she turned 2. [aadcnews.com]

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

  It results in severe motor and autonomic dysfunction, developmental delay and premature death.1–5 AADC deficiency can manifest with a broad spectrum of symptoms, some of the most common being:1–3 Hypotonia Developmental delay Movement disorders, especially [aadcinsights.eu]

  Affected infants may have severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). [ghr.nlm.nih.gov]

• Movement Disorder

  The most often described movement disorders associated with AADC deficiency are oculogyric crises, dystonia, and hypokinesia. [reference.medscape.com]

  Onset is early in life, and key clinical symptoms are hypotonia, movement disorders (oculogyric crisis, dystonia, and hypokinesia), developmental delay, and autonomic symptoms.In this consensus guideline, representatives of the International Working Group [zora.uzh.ch]

  disorders Oculogyric crisis1 Episodes of sustained upward or lateral deviation of the eyes, rhythmic orofacial movements, backward and lateral flexions of the neck, tongue protrusion, and jaw spasms4 Can last a few seconds or persist for several hours [aadcinsights.com]

  The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired voluntary movement. [ncbi.nlm.nih.gov]

• Feeding Difficulties

  The index patient and her brother both had poor sucking power and feeding difficulty at birth and episodes of oculogyric crises, truncal hypotonia, limb hypertonia, sleep disturbances, irritability, and motor delay. [ncbi.nlm.nih.gov]

  difficulties in infancy, Temperature instability, Sleep disturbance, Infantile onset, Ptosis, Global developmental delay, Intermittent hypothermia, Hypotension, Gastroesophageal reflux, Hyperhidrosis, Hyperreflexia *This computer-generated image is for [fdna.health]

  difficulties Motor delay Hyperreflexia Fatigue Hypoplasia of the corpus callosum And another 43 symptoms. [mendelian.co]

  difficulties Hypersalivation Tongue thrusting Gastrointestinal symptoms (dysmotility and absorption, gastroesophageal reflux, constipation and diarrhea) Nasal congestion Developmental delay Hypersensitivity to sensory stimuli Increased startle Head drops [pndassoc.org]

• Weakness

  Affected children commonly experience severe developmental delays, weak muscle tone, and involuntary movement of the limbs. [ncats.nih.gov]

  Affected infants may have severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). [encyclopedia.pub]

  All individuals had impaired motor function, which was attributed to low muscle tone and muscle weakness. [researcher-app.com]

• Cerebral Palsy

  The genetic etiology in cerebral palsy mimics: the results from a Greek tertiary care center. Eur J Paediatr Neurol. 2019;23(3):427-437. doi: 10.1016/j.ejpn.2019.02.001. 9. Krigger KW. Cerebral palsy: an overview. [aadcinsights.com]

  palsy of an unknown cause. [centogene.com]

  Reflecting that this condition remains largely undiagnosed or misdiagnosed (symptoms overlap with conditions such as cerebral palsy and some forms of epilepsy), caregivers reported that they saw a mean number of 8 clinicians before finally arriving at [ajmc.com]

  Palsy, Congenital Myasthenia and Mitochondrial Disorder. [pndassoc.org]

• Nasal Congestion

  Ptosis, excessive sweating, and nasal congestion are some of the most prominent autonomic signs of the disease. Learn more about the signs and symptoms of AADC deficiency. [reference.medscape.com]

  Catecholamine deficiency was manifest by ptosis, nasal congestion, paroxysmal diaphoresis, temperature instability, and blood pressure lability. Abnormal sleep, feeding difficulties, and esophageal reflux were typical. [ncbi.nlm.nih.gov]

  Resulting signs and symptoms can include droopy eyelids (ptosis), constriction of the pupils of the eyes (miosis), inappropriate or impaired sweating, nasal congestion, drooling, reduced ability to control body temperature, low blood pressure (hypotension [encyclopedia.pub]

• Stridor

  Usually they begin in the afternoon and are characterized by increased irritability, crying, abnormal eye movements, stiffness withabnormal posturing and stridor (rattled breathing). [pndassoc.org]

  After gene delivery, parents also reported marked improvement in sweating, feeding difficulties (such as vomiting), and upper airway obstruction due to profuse oral secretions, nasal congestion, and stridor (Fig. 4e–g). [nature.com]

• Constipation

  Patients may also need to take a range of other medications to control dyskinesia, constipation and other symptoms.[1] In July 2021 results of a small gene therapy phase 1 study has been published reporting observation of dopamine restoration on seven [wikiwand.com]

  [medical citation needed] Individuals may also need to take a range of other medications to control dyskinesia, constipation and other symptoms.[1] In July 2021, results of a small gene therapy phase I study reported observation of dopamine restoration [en.wikipedia.org]

  […] uncontrollable head and neck movements, agitation, muscle spasms, eyeballs and gaze deviation, and irritability Dystonia Hypertonia in the extremities Hypokinesia Tremors Involuntary movements of the hands and feet Uncontrollable, writhing movements Diarrhea Constipation [patientworthy.com]

  […] might notice are excessive sweating, drooling, drooping eyelids, or a stuffy or runny nose These symptoms may also be present: Seizures Difficulty sleeping Behavioural problems (like irritability or excessive crying) Problems with digestion Diarrhoea Constipation [aboutaadc.eu]

  The typical symptoms of the syndrome are: Muscular hypotonia of the trunk, Myoclonus, Miosis, Irritability, Limb dystonia, Limb hypertonia, Babinski sign, Choreoathetosis, Autosomal recessive inheritance, Abnormality of the face, Constipation, Emotional [fdna.health]

• Diarrhea

  A 5-year-old girl with a medical history of chronic diarrhea presented three episodes of severe hypoglycemia (20 mg/dL) between ages 3 and 5 years. [ncbi.nlm.nih.gov]

  Case Report: A 5-year-old girl with a medical history of chronic diarrhea presented three episodes of severe hypoglycemia (20 mg/dL) between ages 3 and 5 years. [hal.archives-ouvertes.fr]

  […] uncontrollable head and neck movements, agitation, muscle spasms, eyeballs and gaze deviation, and irritability Dystonia Hypertonia in the extremities Hypokinesia Tremors Involuntary movements of the hands and feet Uncontrollable, writhing movements Diarrhea [patientworthy.com]

• Failure to Thrive

  […] to thrive), and are prone to many medical complications. [rarediseases.org]

• Hypersalivation

  The clinical features of this condition include a combination of dopamine, noradrenaline, and serotonin deficiencies, and a patient may present with hypotonia, oculogyric crises, sweating, hypersalivation, autonomic dysfunction, and progressive encephalopathy [semanticscholar.org]

  Clinical Presentation: symptoms may include temperature instability, ptosis of the eyelids, hypersalivation, distal chorea, swallowing difficulties, drowsiness, irritability, truncal hypotonia, oculogyric crises, pinpoint pupils. [ndrf.org]

  All patients presented distinct extraneurological symptoms, such as hypersalivation, hyperhidrosis, nasal congestion, sleep disturbances and hypoglycaemia. [ncbi.nlm.nih.gov]

  […] oculogyric crises.5,6 WATCH: Take a closer look at an oculogyric crisis episode Other movement disorders and associated symptoms include1: Dystonia (53%) n=41 Hypertonia (44%) n=35 Hypokinesia (32%) n=25 Autonomic symptoms include1: Hyperhidrosis (65%) n=51 Hypersalivation [aadcinsights.com]

  […] temperature regulation, heart rate fluctuations) Excessive sweating Dysphoria and emotional lability Sleep disturbance (excessive or disrupted) Absence of speech Irritability and crying Stridor (rattled breathing) Swallowing and feeding difficulties Hypersalivation [pndassoc.org]

• Sialorrhea

  Drooling Dribbling, Sialorrhea Habitual flow of saliva out of the mouth. [rarediseases.oscar.ncsu.edu]

• Hypotension

  Hypotension Low blood pressure, Arterial hypotension Low Blood Pressure, vascular hypotension. Miosis Pupillary constriction, Constricted pupils Abnormal (non-physiological) constriction of the pupil. [rarediseases.oscar.ncsu.edu]

  This report presents the case of an adult male with aromatic L-amino acid decarboxylase deficiency who developed serious cardiac rhythm disturbances during treatment with intravenous dopamine and norepinephrine for severe hypotension. [ncbi.nlm.nih.gov]

  Resulting signs and symptoms can include droopy eyelids (ptosis), constriction of the pupils of the eyes (miosis), inappropriate or impaired sweating, nasal congestion, drooling, reduced ability to control body temperature, low blood pressure (hypotension [encyclopedia.pub]

  Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Answers T Wassenberg, M Willemsen, H Dijkman, J Deinum, L Monnens Pediatric Nephrology 32 (7), 1171-1174, 2017 2017 the explanation for urinary dopamine excretion [scholar.google.it]

• Orthostatic Hypotension

  Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Answers T Wassenberg, M Willemsen, H Dijkman, J Deinum, L Monnens Pediatric Nephrology 32 (7), 1171-1174, 2017 2017 the explanation for urinary dopamine excretion [scholar.google.it]

  Postural orthostatic tachycardia syndrome: the Mayo clinic experience. Mayo Clin Proc. 2007 Mar. 82(3):308-13. [Medline]. Freeman R. Current pharmacologic treatment for orthostatic hypotension. Clin Auton Res. 2008 Mar. 18 Suppl 1:14-8. [Medline]. [emedicine.medscape.com]

  or orthostatic hypotension); and all key symptoms ranged in severity from mild to very severe. [journals.lww.com]

  Hypotension or orthostatic hypotension was reported in 15 patients, with onset mostly in late childhood or adolescence. In 14 patients, blood pressure was reported to be normal. [ojrd.biomedcentral.com]

• Miosis

  Resulting signs and symptoms can include droopy eyelids (ptosis), constriction of the pupils of the eyes (miosis), inappropriate or impaired sweating, nasal congestion, drooling, reduced ability to control body temperature, low blood pressure (hypotension [encyclopedia.pub]

  The typical symptoms of the syndrome are: Muscular hypotonia of the trunk, Myoclonus, Miosis, Irritability, Limb dystonia, Limb hypertonia, Babinski sign, Choreoathetosis, Autosomal recessive inheritance, Abnormality of the face, Constipation, Emotional [fdna.health]

  Miosis Pupillary constriction, Constricted pupils Abnormal (non-physiological) constriction of the pupil. Drooling Dribbling, Sialorrhea Habitual flow of saliva out of the mouth. [rarediseases.oscar.ncsu.edu]

• Abnormal Eye Movement

  Common manifestations Overall hypotonia (including trunk, head and limbs) Rigidity and stiffness Abnormal eye movements (crossing, upward fixed gaze, eyes darting side to side) Ptosis (droopy eyelids) Dystonia Paucity of spontaneous movements Limb tremor [pndassoc.org]

  Treatment with either bromocriptine or tranylcypromine stopped the abnormal eye movements; tranylcypromine treatment also improved muscle tone and led to a rise in plasma norepinephrine and whole blood serotonin. [n.neurology.org]

  The patient was treated with carbamazepine, but there was minimal improvement of his abnormal eye movements. [hkmj.org]

  Abnormalities of eye movement may range from brief upward eye-rolling movements to oculogyric crisis, a condition characterized by eyes that roll upward for a sustained period of time. [rarediseases.org]

• Blepharoptosis

  Ptosis Drooping upper eyelid, Eye drop, Blepharoptosis, Eyelid ptosis [more] The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of [rarediseases.oscar.ncsu.edu]

• Muscle Spasm

  Oculogyric crises, which are characterized by abnormal rotation of the eyeballs and gaze deviation, uncontrolled head and neck movements, muscle spasms, agitation, and irritability, can last several hours and tend to recur every 2-5 days. [reference.medscape.com]

  People with AADC deficiency may also experience episodes called oculogyric crises that involve abnormal rotation of the eyeballs; extreme irritability and agitation; and pain, muscle spasms, and uncontrolled movements, especially of the head and neck. [encyclopedia.pub]

  There is a wide range in the symptoms present and their severity, but possible effects include: Hypotonia in the trunk Oculogyric crisis These episodes include uncontrollable head and neck movements, agitation, muscle spasms, eyeballs and gaze deviation [patientworthy.com]

• Muscle Weakness

  All individuals had impaired motor function, which was attributed to low muscle tone and muscle weakness. [researcher-app.com]

  The disutilities of moving from the best and worst symptom levels for the other attributes were as follows: “Muscle weakness” −0.0261; “Feeding” −0.0240; and “OGC” – 0.0194. [dovepress.com]

• Small Hand

  In addition, we observed that all patients (100.0%) had small hands and feet. [ncbi.nlm.nih.gov]

  Two patients (50.0%) had small hands and feet. Gastrointestinal problems, such as obstipation, and gastrointestinal reflux, were occurred in two (50.0%), and one (25.0%) patients, respectively. [nature.com]

• Muscle Hypotonia

  At 10 months of age, global developmental delay and profound muscle hypotonia were present. Brain MRI was normal, and head circumference was at the 25th percentile. [medlink.com]

• Myopathy

  E-2529 149 Metabolic Myopathies E-2547 150 Inflammatory Myopathies E-2595 151 Channelopathies E-2605 152 Management of Children with Neuromuscular Disorders E-2626 153 Endocrine Disorders of the Hypothalamus and Pituitary in Childhood and Adolescence [books.google.de]

• Sweating

  Irritability Irritable Hyperhidrosis Profuse sweating, Excessive sweating, Sweating, Increased sweating, Sweating profusely, Diaphoresis [more] Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather [rarediseases.oscar.ncsu.edu]

  Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more ] 0000975 Hyperreflexia Increased reflexes 0001347 Hypotension Low blood pressure 0002615 Infantile onset Onset in first year of life Onset in infancy [ more ] [rarediseases.info.nih.gov]

• Hyperhidrosis

  All patients presented distinct extraneurological symptoms, such as hypersalivation, hyperhidrosis, nasal congestion, sleep disturbances and hypoglycaemia. [ncbi.nlm.nih.gov]

  […] be familiar with oculogyric crises.5,6 WATCH: Take a closer look at an oculogyric crisis episode Other movement disorders and associated symptoms include1: Dystonia (53%) n=41 Hypertonia (44%) n=35 Hypokinesia (32%) n=25 Autonomic symptoms include1: Hyperhidrosis [aadcinsights.com]

  Emotional lability, Decreased CSF homovanillic acid, Diarrhea, Feeding difficulties in infancy, Temperature instability, Sleep disturbance, Infantile onset, Ptosis, Global developmental delay, Intermittent hypothermia, Hypotension, Gastroesophageal reflux, Hyperhidrosis [fdna.health]

  Irritability Irritable Hyperhidrosis Profuse sweating, Excessive sweating, Sweating, Increased sweating, Sweating profusely, Diaphoresis [more] Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather [rarediseases.oscar.ncsu.edu]

  […] signs and symptoms of Aromatic L-Amino Acid Decarboxylase Deficiency Disorder may include: Babinski sign Choreoathetosis Constipation Decreased CSF homovanillic acid Diarrhea Emotional lability Feeding difficulties in infancy Gastroesophageal reflux Hyperhidrosis [dovemed.com]

• Increased Sweating

  Irritability Irritable Hyperhidrosis Profuse sweating, Excessive sweating, Sweating, Increased sweating, Sweating profusely, Diaphoresis [more] Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather [rarediseases.oscar.ncsu.edu]

  Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more ] 0000975 Hyperreflexia Increased reflexes 0001347 Hypotension Low blood pressure 0002615 Infantile onset Onset in first year of life Onset in infancy [ more ] [rarediseases.info.nih.gov]

• Abnormal Sweating

  She also has a history of some autonomic symptoms, such as abnormal sweating. [bmcneurol.biomedcentral.com]

• Psychomotor Retardation

  These patients were born to healthy and non-consanguineous parents, and presented oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation since early infancy. [ncbi.nlm.nih.gov]

  retardation, Motor and developmental delay, Developmental delay in early childhood, Retarded psychomotor development, Retarded mental development, Delayed cognitive development, Retarded development, Delayed developmental milestones, Delayed development [rarediseases.oscar.ncsu.edu]

  In 1990, Hyland et al., diagnosed the first case of AADC deficiency by screening CSF samples in patients with psychomotor retardation. [6] Main clinical features are muscular hypotonia, dystonia, oculogyric crises, developmental delay, and additional [annalsofian.org]

• Behavior Disorder

  Symptoms, including hypotonia and movement disorders (especially oculogyric crisis and dystonia) as well as autonomic dysfunction and behavioral disorders, vary extensively and typically emerge in the first months of life. [unboundmedicine.com]

  Glutamic acid can be used in correcting personality disorders and treating childhood behavioral disorders. It also takes places in treating epilepsy, mental retardation, muscular dystrophy, ulcers, and hypoglycemic coma. [en.wikibooks.org]

• Dysphoric Mood

  The Symptoms associated with AADC deficiency AADC deficiency presents early in life with hypotonia, hypokinesia, oculogyric crisis, autonomic dysfunction, dysphoric mood, and sleep disturbance. [aadcresearch.org]

• Abnormal Behavior

  They can cause the body to behave abnormally. Behavioral problems These can include: Irritability Excessive crying. Sleep disturbances These can include: Abnormal sleep cycles Trouble falling asleep Trouble staying asleep. [childneurologyfoundation.org]

• Dystonia

  […] definitions of AADC Samples in periodicals archive: The diseases identified to date include: tyrosine hydroxylase deficiency (TH deficiency); aromatic L-amino acid decarboxylase deficiency (ALADD or AADC); GTP-1 cyclohydrolase deficiency (dopa-responsive dystonia [acronymfinder.com]

  Symptoms typically appear in the first year of life and include oculogyric crises and dystonia, hypotonia, and global developmental delay. Dystonia is of particular concern as a dystonic storm can ensue leading to rhabdomyolysis. [thieme-connect.com]

  View the complete list with 39 more genes Specificity 2 % Genes 100 % Dystonia (NGS panel for 43 genes). By CGC Genetics (Portugal). [mendelian.co]

  TH Tyrosine hydroxylase deficiency, dopa-responsive dystonia Please note this panel does not cover disorders that are caused by defects in glutamatergic receptors. [invitae.com]

  L-amino acid decarboxylase deficiency Description Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive disorders of monoamine neurotransmitter metabolism, clinically characterized by vegetative symptoms, oculogyric crises, dystonia [genome.jp]

• Seizure

  Epilepsy Seizure. 2010;3(1):147-153. doi: 10.3805/eands.3.147. [aadcinsights.com]

  She became pale and sweaty with hypothermia (33.5°C), bradycardia (45 bpm), and acidosis and presented a generalized seizure. [ncbi.nlm.nih.gov]

  When this happens, it can look like the child is having a seizure View this short video to see what one oculogyric crisis episode looks like. Not all oculogyric crisis episodes may look the same. [aboutaadc.eu]

  Symptoms of dysfunction include: Excessive sweating Droopy eyelids Temperature instability Low blood pressures Nasal congestion Seizures Seizures are a burst of electrical activity in the brain. They can cause the body to behave abnormally. [childneurologyfoundation.org]

• Irritability

  Butler Medicine, Biology Journal of child neurology 1997 The male patient presented with developmental delay, extreme hypotonia, oculogyric crises, and irritability and combined treatment with pyridoxine, tranylcypromine, and bromocriptine produced some [semanticscholar.org]

  Clinical Presentation: symptoms may include temperature instability, ptosis of the eyelids, hypersalivation, distal chorea, swallowing difficulties, drowsiness, irritability, truncal hypotonia, oculogyric crises, pinpoint pupils. [ndrf.org]

  The index patient and her brother both had poor sucking power and feeding difficulty at birth and episodes of oculogyric crises, truncal hypotonia, limb hypertonia, sleep disturbances, irritability, and motor delay. [ncbi.nlm.nih.gov]

  Oculogyric crises, which are characterized by abnormal rotation of the eyeballs and gaze deviation, uncontrolled head and neck movements, muscle spasms, agitation, and irritability, can last several hours and tend to recur every 2-5 days. [reference.medscape.com]

• Involuntary Movements

  Affected children commonly experience severe developmental delays, weak muscle tone, and involuntary movement of the limbs. [ncats.nih.gov]

  Because an association with epileptic seizures is uncommon in AADC deficiency, some cases may have been regarded as involuntary non-epileptic movements. [ncbi.nlm.nih.gov]

  and irritability Dystonia Hypertonia in the extremities Hypokinesia Tremors Involuntary movements of the hands and feet Uncontrollable, writhing movements Diarrhea Constipation Reflux Developmental delay In many affected individuals, the autonomic nervous [patientworthy.com]

  A child with AADC deficiency may be unable to: Lift and control their head Babble or say words Crawl, sit, or stand without support Walk Many children with AADC deficiency also have movement problems, including: Involuntary eye movements (called oculogyric [aboutaadc.eu]

  Cranial magnetic resonance imaging, which performed because of involuntary non-epileptic dystonic movements resembling epileptic spasms, was normal. [annalsofian.org]

• Hyperreflexia

  Decreased CSF homovanillic acid, Diarrhea, Feeding difficulties in infancy, Temperature instability, Sleep disturbance, Infantile onset, Ptosis, Global developmental delay, Intermittent hypothermia, Hypotension, Gastroesophageal reflux, Hyperhidrosis, Hyperreflexia [fdna.health]

  […] genes panels Clinical Features Top most frequent phenotypes and symptoms related to Aromatic L-amino Acid Decarboxylase Deficiency Intellectual disability Global developmental delay Generalized hypotonia Pain Ptosis Feeding difficulties Motor delay Hyperreflexia [mendelian.co]

  […] symptoms of Aromatic L-Amino Acid Decarboxylase Deficiency Disorder may include: Babinski sign Choreoathetosis Constipation Decreased CSF homovanillic acid Diarrhea Emotional lability Feeding difficulties in infancy Gastroesophageal reflux Hyperhidrosis Hyperreflexia [dovemed.com]

  Less common symptoms include seizures, behavioral problems such as irritability and excessive crying, decreased or increased sleep (insomnia and hypersomnia, respectively), and decreased or increased reflexes (hyporeflexia and hyperreflexia, respectively [rarediseases.org]

Metabolic workup, including thyroid function tests, and determination of ammonia, lactate, and glucose levels and urine amino acids screening yielded nil abnormal. [hkmj.org]

Although many tests, such as a complete blood count, measurement of electrolyte levels, and magnetic resonance imaging of the brain are usually performed in the diagnostic workup of a child presenting with neurodevelopmental delay, the laboratory diagnosis [rarediseases.org]

• Hypoglycemia

  The episodes of hypoglycemia and the chronic diarrhea were suppressed. Here is the first case report of long-fasting hypoglycemia due to a nontypical AADC deficiency. [ncbi.nlm.nih.gov]

  The episodes of hypoglycemia and the chronic diarrhea were suppressed. Conclusion: Here is the first case report of long-fasting hypoglycemia due to a nontypical AADC deficiency. [hal.archives-ouvertes.fr]

  Neonatal symptoms include lethargy, hypotonia, metabolic acidosis, and hypoglycemia. [medlink.com]

  […] miosis), inappropriate or impaired sweating, nasal congestion, drooling, reduced ability to control body temperature, low blood pressure (hypotension), backflow of acidic stomach contents into the esophagus (gastroesophageal reflux), low blood sugar (hypoglycemia [encyclopedia.pub]

• Hyperprolactinemia

  He did not suffer from hypoglycemia, hyperprolactinemia, and growth hormone deficiency. [annalsofian.org]

At the time of designation no satisfactory method was authorised in the EU for the treatment of aromatic L-amino acid decarboxylase deficiency. Patients were mainly offered supportive treatment to manage symptoms. [ema.europa.eu]

Treatment with either bromocriptine or tranylcypromine stopped the abnormal eye movements; tranylcypromine treatment also improved muscle tone and led to a rise in plasma norepinephrine and whole blood serotonin. [n.neurology.org]

In the face of limited definitive evidence, we constructed practical recommendations on clinical diagnosis, laboratory diagnosis, imaging and electroencephalograpy, medical treatments and non-medical treatments. [zora.uzh.ch]

The success of gene therapy in AADC deficiency treatment will depend on timely diagnosis to facilitate treatment administration before the onset of neurologic damage. [unboundmedicine.com]

@article{Alfadhel2014AromaticAA, title={Aromatic Amino Acid Decarboxylase Deficiency Not Responding to Pyridoxine and Bromocriptine Therapy: Case Report and Review of Response to Treatment}, author={Majid Alfadhel and Rana F. [semanticscholar.org]

5C59.00 ICD-10: G24.8 MeSH: C537437 OMIM: 608643 Reference PMID: 15079002 Authors Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC Title Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis [genome.jp]

Prognosis The prognosis mainly depends on the disease severity. There is no clear genotype-phenotype correlation but some mutations are associated with severe phenotype. [orpha.net]

Treatment options are limited, in many cases not beneficial, and prognosis is uncertain. [archive-ouverte.unige.ch]

April 13, 2004 ; 62 (7) Views & Reviews Clinical features, treatment, and prognosis R. Pons, B. Ford, C. A. Chiriboga, P. T. Clayton, V. Hinton, K. Hyland, R. Sharma, D. C. [neurology.org]

During the 17-hour fast test performed to determine the etiology of her hypoglycemia, insulin and C-peptide were appropriately low, and human GH, IGF-I, cortisol, amino acids, and acylcarnitines were in the usual range for fasting duration. [ncbi.nlm.nih.gov]

Etiology Aromatic L-amino acid decarboxylase (AADC), coded by the DDC gene (7p12.2-p12.1), is the final enzyme in the biosynthesis of the monoamine neurotransmitters serotonin and dopamine; dopamine is the precursor for norepinephrine and epinephrine. [orpha.net]

The genetic etiology in cerebral palsy mimics: the results from a Greek tertiary care center. Eur J Paediatr Neurol. 2019;23(3):427-437. doi: 10.1016/j.ejpn.2019.02.001. 9. Krigger KW. Cerebral palsy: an overview. [aadcinsights.com]

Summary Epidemiology The global incidence of aromatic L-amino acid decarboxylase deficiency (AADC) deficiency is unknown. Since the initial description more than 150 patients have been described in the medical literature. [orpha.net]

The Company’s platform includes epidemiologic, phenotypic, and genetic data that reflects a global population, and also a biobank of these patients’ blood samples. [centogene.com]

PATHOPHYSIOLOGY AND EPIDEMIOLOGY The DDC gene creates an enzyme that is required for the production of the neurotransmitters dopamine, epinephrine, norepinephrine, serotonin, and melatonin. [checkrare.com]

To provide a basis for improving the understanding of the epidemiology, genotype–phenotype correlation and outcome of these diseases their impact on the quality of life of patients, and for evaluating diagnostic and therapeutic strategies a patient registry [en.wikipedia.org]

Epidemiology Specific and logistically challenging investigations of neurotransmitters or molecular analyses are necessary to make the diagnosis of aromatic L-amino acid decarboxylase deficiency. These analyses are not available in many countries. [medlink.com]

[…] trafficking/metabolism may be compromised in AADC deficiency. 5-HTP was demonstrated to potentially be mildly toxic to human neuroblastoma cells but not astrocytoma cells; however the concentrations required for this response are likely to be higher than pathophysiological [discovery.ucl.ac.uk]

This review article illustrates the pathophysiology, diagnostic methods, and therapeutic strategies for patients with AADC deficiency. [go.gale.com]

We hypothesize that in addition to the hypodopaminergic, a hypercholinergic state is contributing to the pathophysiology of dystonia in AADC deficiency, as well as to the associated rhabdomyolysis. [thieme-connect.com]

However inhibiting AADC prevented the GSH increase induced by L-dopa. Furthermore dopamine but not L-dopa, increased GSH release from human astrocytoma cells, which do not express AADC activity. [discovery.ucl.ac.uk]

How can Aromatic L-Amino Acid Decarboxylase Deficiency Disorder be Prevented? Currently, Aromatic L-Amino Acid Decarboxylase Deficiency Disorder may not be preventable, since it is a genetic disorder. [dovemed.com]

[…] accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 6 October 2016 recommending the granting of this designation. the seriousness of the condition; the existence of alternative methods of diagnosis, prevention [ema.europa.eu]

The condition appears in the first year of life and prevents sufferers from ever talking, walking and sitting up. [io.nihr.ac.uk]

OBJECTIVES: To develop a diagnostic platform for preimplantation genetic diagnosis (PGD) and prenatal genetic diagnosis (PND) to prevent births of aromatic L-amino acid decarboxylase deficiency (AADC) patients. [ncbi.nlm.nih.gov]