Pterin-4-carbinolamine dehydratase deficiency (Q105036): Difference between revisions
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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 | |||
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 |
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| 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 |
