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References OMIM Gene GeneReviews HGMD HGNC
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)