Пізня цитрулінемія I типу з пізнім початком
ORPHA:247573· ICD-10 E72.2· Late-onset citrullinemia type I
Визначення(English summary)
A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.
- Успадкування
- Autosomal recessive
- Вік початку
- Adult