Ornithine transcarbamylase deficiency in male adolescence and adulthood.
A discrete deficiency of hepatic ornithine transcarbamylase (OTC) was found in male patients who were 58, 46 and 17 years old. Each had developed hyperammonemic coma. The mother and a sister of the 17-year-old patient exhibited orotic aciduria either spontaneously or after protein loading, thus demonstrating heterozygosity. A sister of one other patient and a daughter of the third patient showed a smaller orotic aciduria after protein loading. These observations indicate that inherited deficiency of OTC should be included in the differential diagnosis of hyperammonemic states in adult male patients.
Yoshino
M
M
Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan.
Nishiyori
J
J
Yamashita
F
F
Kumashiro
R
R
Abe
H
H
Tanikawa
K
K
Ohno
T
T
Nakao
K
K
Kaku
N
N
Fukushima
H
H
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology*; D000641:Ammonia / Q000097:blood*; D002223:Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) / Q000378:metabolism; D004044:Dietary Proteins; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D015151:Immunoblotting; D008099:Liver / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D009954:Ornithine Carbamoyltransferase / Q000235:genetics / Q000378:metabolism; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D009963:Orotic Acid / Q000652:urine; D010375:Pedigree
D004044:Dietary Proteins; D009963:Orotic Acid; D000641:Ammonia; D009954:Ornithine Carbamoyltransferase; D002223:Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)