GTP cyclohydrolase 1 deficiency (Q105032): Difference between revisions
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Revision as of 10:56, 17 August 2026
GTP-cyclohydrolase I deficiency is an autosomal recessive inborn error of metabolism that causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, together with defective neurotransmission of monoamines. The principal manifestations include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing.
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| default for all languages | ID_987168605 |
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| English | GTP cyclohydrolase 1 deficiency |
GTP-cyclohydrolase I deficiency is an autosomal recessive inborn error of metabolism that causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, together with defective neurotransmission of monoamines. The principal manifestations include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. |
