[Hyperammonemia due to ornithine transcarbamylase deficiency--a cause of lethal metabolic crisis during the newborn period and infancy (author's transl)].
A severe hyperammonemia is the characteristic finding in patients with enzyme defects in urea cycle and one of the main causes of the acute metabolic crisis dsuring the newborn period and infancy. A case report is given about two male infants, who died in the age of one and of seven months respectively. In the second child the blood ammonia concentration raised up to 833 micrograms/100 ml, and, OTC deficiency was diagnosed due to enzyme determination in liver biopsie. Probably, the first child, that also died as newborn, suffered from the same disease. In this case, only post mortem findings are available.
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology* / Q000473:pathology; D000641:Ammonia / Q000097:blood*; D001344:Autopsy; D002540:Cerebral Cortex / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000378:metabolism; D008099:Liver / Q000473:pathology; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D014508:Urea / Q000378:metabolism
D000641:Ammonia; D014508:Urea
Hyperammonämie durch Ornithin- Transcarbamylase-Mangel--Ursache letaler metabolischer Krisen im Säuglingsalter.