GTP cyclohydrolase 1 deficiency (Q105032): Difference between revisions
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A deficiência de GTP (guanosina-5-trifosfato)-ciclohidrolase 1 é um erro inato autossômico recessivo que causa hiperfenilalaninemia maligna devido à deficiência de tetra-hidrobiopterina, juntamente com neurotransmissão defeituosa de monoaminas. As principais manifestações incluem: atraso psicomotor, distúrbios da tonicidade, convulsões, sonolência, irritabilidade, movimentos anormais, hipertermia, hipersalivação e dificuldade para engolir. | |||
| description / en | description / en | ||
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. | |||
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| 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. |
