A new case of arginase deficiency in a Spanish male.
A new case of arginase deficiency is reported in a male newborn from Spain. In contrast with the majority of the earlier cases, this infant showed severe protein intolerance of early onset. The diagnosis was based on the assay of the urea cycle enzymes in a postmortem liver sample. Levels of erythrocyte arginase were also determined in the parents and in a sister of the patient, and were consistent with heterozygosity. From a study of the pedigree it appears that arginase deficiency in this family presents a dramatic course.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D001120:Arginine / Q000097:blood; D004044:Dietary Proteins / Q000008:administration & dosage; D006801:Humans; D020162:Hyperargininemia; D007231:Infant, Newborn; D008297:Male; D013030:Spain
D004044:Dietary Proteins; D001120:Arginine