Late-onset citrullinemia type I

Orpha code: 247573OMIM code:

Definition

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.

Disease data
Classification

Clinical subtype

Synonyms
Citrulinemia typu 1 o poczatku w wieku dorosłym
Citrulinemia typu 1 o późnym początku
Citrulinemia typu I o późnym poczatku
Late-onset citrullinemia type 1
ORPHA code
247573
OMIM code
-
ICD10 code
E72.2
ICD11 code
-

No additional description.

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