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GTP cyclohydrolase I deficiency with hyperphenylalaninemia

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description A disease characterized by malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, and defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia. In this intermediate phenotype, there is marked motor delay, but no mental retardation and only minimal, if any, hyperphenylalaninemia.
Mondo Term and Equivalent IDs
MONDO:0100186:  GTP cyclohydrolase I deficiency with hyperphenylalaninemia
GARD:0002844: 
NCIT:C141442: 
Orphanet:2102: 
SCTID:23447005: 
UMLS:C0268467: