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An adult-onset case of argininosuccinate synthetase deficiency presenting with atypical citrullinemia.

Authors
Type
Published Article
Journal
Internal medicine (Tokyo, Japan)
Publication Date
Volume
38
Issue
7
Pages
590–596
Identifiers
PMID: 10435367
Source
Medline
License
Unknown

Abstract

A 52-year-old heavy drinker presented with repeated episodes of disturbance of consciousness and an increase in serum ammonia level, triggered by excessive alcohol intake. He was diagnosed as having adult-onset citrullinemia with deficiency of hepatic argininosuccinate synthetase (ASS) activity. Cranial magnetic resonance imaging (MRI) showed high-intensity lesions in the central pons and the bilateral middle cerebellar peduncles on T2-weighted images. Although almost all cases of adult-onset citrullinemia have been reported to be enzymologically classified as type II, the serum amino acid pattern and serum level of human pancreatic secretory trypsin inhibitor (hPSTI) were atypical for type II in the present case.

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