| DOPA-RESPONSIVE DYSTONIA | |
| DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE, INCLUDED | |
|
233910
OMIM = Online Mendelian Inheritance of Men | |
|
101150 | |
| GTP cyclohydrolase I | |
| 3.5.4.16 | |
| rare autosomal recessive | |
| Laboratory findings | 5-Hydroxyindolacetic acid (5-HIAA) dec (cerebrospinal fluid) Biopterin dec (cerebrospinal fluid) Biopterin dec (urine) Homovanillic acid (HVA) dec (cerebrospinal fluid) Neopterin dec (cerebrospinal fluid) Phenylalanine normal/inc (plasma) Phenylalanine normal/inc (urine) Phenylalanine (Phe) loading test (plasma) |
| Symptoms | abnormal movement attention deficit disorder behavior, aggressive drooling dysphagia dystonia feeding difficulties, poor feeding hypersalivation hyperthermia hypertonia, spasticity hypotonia intellectual disability/intellectual developmental disorder irritability lethargy, drowsiness, apathy mental retardation microcephaly (<2 SD for age) muscular rigidity onset, infancy seizures swallowing difficulties temperature instability |