Pterin-4-carbinolamine dehydratase deficiency (Q105036): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed an Item |
||||||||||||||
| (6 intermediate revisions by the same user not shown) | |||||||||||||||
| description / pt-br | description / pt-br | ||||||||||||||
A deficiência de desidratase é uma das etiologias da hiperfenilalaninemia devido à deficiência de tetraidrobiopteína. No entanto, a deficiência de pterina-4 alfa-carbinolamina desidratase é uma anormalidade patológica leve, exceto pelo risco de hiperfenilalaninemia induzida. Em alguns casos, os seguintes sinais foram observados: hipotonia, EEG mostrando sinais irritativos e aquisição lenta de habilidades psicomotoras. É diagnosticado quando o isômero 7-biopterina (primapterina) é - geralmente fortuitamente - encontrado nos fluidos biológicos de uma criança com hiperfenilalaninemia. O manejo é baseado principalmente na ingestão dietética e restrita de fenilalanina | |||||||||||||||
| description / en | description / en | ||||||||||||||
Dehydratase deficiency is one of the etiologies of hyperphenylalaninemia due to tetrahydrobioptein deficiency. However pterin-4 alpha-carbinolamine dehydratase (PCD) deficiency is a mild pathological abnormality, except for the risk of induced hyperphenylalaninemia. In some cases, the following signs have been noted: hypotonia, EEG showing irritative signs, and slow acquisition of psychomotor skills. It is diagnosed when the 7-biopterin isomer (primapterin) is - usually fortuitously - found in the biological fluids of an infant with hyperphenylalaninemia. Management is mainly based on dietary and restricted phenylalanine intake | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/956925984 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_956925984 | |||||||||||||||
| Property / CURIE: CID11:ID_956925984 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_956925984 | |||||||||||||||
| Property / Canary Token: dki-india-ID_956925984 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
16 August 2026
| |||||||||||||||
| Property / Collection date: 16 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 10:56, 17 August 2026
Dehydratase deficiency is one of the etiologies of hyperphenylalaninemia due to tetrahydrobioptein deficiency. However pterin-4 alpha-carbinolamine dehydratase (PCD) deficiency is a mild pathological abnormality, except for the risk of induced hyperphenylalaninemia. In some cases, the following signs have been noted: hypotonia, EEG showing irritative signs, and slow acquisition of psychomotor skills. It is diagnosed when the 7-biopterin isomer (primapterin) is - usually fortuitously - found in the biological fluids of an infant with hyperphenylalaninemia. Management is mainly based on dietary and restricted phenylalanine intake
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_956925984 |
||
| English | Pterin-4-carbinolamine dehydratase deficiency |
Dehydratase deficiency is one of the etiologies of hyperphenylalaninemia due to tetrahydrobioptein deficiency. However pterin-4 alpha-carbinolamine dehydratase (PCD) deficiency is a mild pathological abnormality, except for the risk of induced hyperphenylalaninemia. In some cases, the following signs have been noted: hypotonia, EEG showing irritative signs, and slow acquisition of psychomotor skills. It is diagnosed when the 7-biopterin isomer (primapterin) is - usually fortuitously - found in the biological fluids of an infant with hyperphenylalaninemia. Management is mainly based on dietary and restricted phenylalanine intake |
Statements
CID11:ID_956925984
0 references
dki-india-ID_956925984
0 references
Concluído
0 references
16 August 2026
0 references
