| DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY | |
| SEPIAPTERIN REDUCTASE DEFICIENCY | |
|
612716
OMIM = Online Mendelian Inheritance of Men | |
|
70594 | |
| Sepiapterin reductase | |
| 1.1.1.153 | |
| rare (<1:1000000) autosomal recessive | |
| Laboratory findings | 5-Hydroxyindolacetic acid (5-HIAA) dec (cerebrospinal fluid) 5-Hydroxyindolacetic acid (5-HIAA) dec (urine) Biopterin inc (cerebrospinal fluid) Dihydrobiopterin inc (cerebrospinal fluid) Homovanillic acid (HVA) decreased (urine) Homovanillic acid (HVA) dec (cerebrospinal fluid) Phenylalanine (Phe) loading test (plasma) Prolactin inc (plasma) Sepiapterin inc (urine) Sepiapterin inc (cerebrospinal fluid) Vanillylmandelic acid (VMA) decreased (urine) |
| Symptoms | ataxia behavior, abnormal or bizarre, confusion behavior, aggressive behavior, hyperactive, restless chorea or athetosis cognitive impairment cortical or cerebral atrophy diurnal fluctuation of symptom dysarthria dystonia extrapyramidal signs gastrointestinal dysmotility growth retardation, poor growth hypersalivation hypertonia, spasticity hypokinesia hypotonia mental retardation microcephaly (<2 SD for age) motor retardation MRI, brain, abnormalities [-] muscle weakness oculogyric crisis onset, childhood onset, infancy Parkinsonism progressive neurologic defect psychomotor retardation seizures speech difficulties tremor or twitching |