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. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/987168605 / rank | |||||||||||||||
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CID11:ID_987168605 | |||||||||||||||
| Property / CURIE: CID11:ID_987168605 / rank | |||||||||||||||
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dki-india-ID_987168605 | |||||||||||||||
| Property / Canary Token: dki-india-ID_987168605 / rank | |||||||||||||||
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| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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16 August 2026
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| Property / Collection date: 16 August 2026 / rank | |||||||||||||||
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Latest 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 |
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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. |
Statements
CID11:ID_987168605
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dki-india-ID_987168605
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Concluído
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16 August 2026
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