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Adult-onset citrullinemia type I
rareAdult-onset citrullinemia type I is 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.
- Identifiers
- MONDO:0016601 Orphanet:247573
- Part of
- Citrullinemia type I
- Also known as
- adult-onset citrullinemia type 1 · late-onset citrullinemia type 1 · late-onset citrullinemia type I
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