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GENATLAS PHENOTYPE |
last update : 03-01-2017 |
Symbol | GTPCD |
Location | 14q22.2 |
Name | guanosine triphosphate cyclohydrolase 1 deficiency |
Other name(s) | GTP cyclohydrolase 1 deficiency |
Corresponding gene | GCH1 |
Main clinical features | atypical phenylketonuria severe with neopterin deficiency, neurological symptoms associated with extrapyramidal movement disorders and also persistently normal phenylalanine levels in the presence of early-onset complex neurological dysfunction |
Genetic determination | autosomal recessive |
autosomal dominant | |
Function/system disorder | metabolism/aminoacids |
Type | disease |
Gene product |
Name | GTP cyclohydrolase 1 (GCH1) |
Remark(s) |