| AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (AADC) | |
| AROMATIC L-AMINO ACID DECARBOXYLASE; DOPA DECARBOXYLASE; DDC | |
|
608643
OMIM = Online Mendelian Inheritance of Men | |
|
35708 | |
| Aromatic-L-amino-acid decarboxylase | |
| 4.1.1.28 | |
| rare (~100 patients) autosomal recessive mutation in the AADC gene | |
| Laboratory findings | 3-O-methyldopa inc (cerebrospinal fluid) N-Acetyltyrosine normal/inc (urine) 3-Methoxytyramine inc (urine) 3-Methoxytyrosine inc (urine) 3-Methoxytyrosine inc (cerebrospinal fluid) 3-Methoxytyrosine inc (plasma) 5-Hydroxyindolacetic acid (5-HIAA) dec (cerebrospinal fluid) 5-Hydroxytryptophan inc (cerebrospinal fluid) 5-Hydroxytryptophan inc (urine) 5-Hydroxytryptophan inc (plasma) Adrenaline dec (plasma) Aromatic L-amino acid decarboxylase dec (liver) Aromatic L-amino acid decarboxylase dec (plasma) D-Glucose normal/dec (serum) Dopamine inc (urine) Dopamine inc (cerebrospinal fluid) Dopamine inc (plasma) Homovanillic acid (HVA) dec (cerebrospinal fluid) L-Dopa inc (urine) Noradrenaline (Norepinephrine) dec (plasma) S-Adenosylmethionine dec (cerebrospinal fluid) Vanillactic acid normal/inc (urine) Vanillic acid inc (urine) |
| Symptoms | temperature instability abnormal movement Amino acid, spinal fluid Amino acids, plasma Amino acids, urine athetosis cerebral atrophy chorea or athetosis constipation developmental delay diarrhea diurnal fluctuation of symptom drooling dysarthria dystonia encephalopathy extrapyramidal signs eye movements, abnormal feeding difficulties, poor feeding hypersalivation hypertonia, spasticity hypoglycemia hypokinesia hypotension hypothermia hypotonia impaired visual acuity infections (severe or recurrent) irritability lethargy, drowsiness, apathy mental retardation metabolic acidosis motor retardation movement disorder, hyperkinetic MRI, brain, abnormalities [-] myoclonus oculogyric crisis onset, adolescent onset, childhood onset, infancy onset, neonatal Organic acid, spinal fluid Organic acids, urine pallor psychomotor retardation ptosis (drooping eyelid) seizures speech development, delayed, abnormal sweating tremor or twitching |