An adult-onset case of argininosuccinate synthetase deficiency presenting with atypical citrullinemia.
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.
Osafune
K
K
Department of Neurology, Hyogo Prefectural Amagasaki Hospital, Hyogo.
Ichikawa
K
K
Yasui
T
T
Sekikawa
A
A
Takeoka
H
H
Kanatsu
K
K
Kohigashi
K
K
Koshiyama
H
H
D000328:Adult; D017668:Age of Onset; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000175:diagnosis / Q000201:enzymology; D000596:Amino Acids / Q000097:blood; D001124:Argininosuccinate Synthase / Q000172:deficiency*; D002956:Citrulline / Q000097:blood*; D006801:Humans; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged
D000596:Amino Acids; D002956:Citrulline; D001124:Argininosuccinate Synthase