[Hyperammonemia type II as an example of urea cycle disorder].
Ornithine transcarbamylase deficiency is the most common inherited urea cycle disorder. Its clinical manifestations as lethargy, vomites, coma and cerebral edema are the effect of the higher concentration of the ammonia in plasma. Hyperammonemia, caused by mutation in ornithine transcarbamylase gene, is often considered as a reason of coma by pediatricians but skipped by internist, although it is the third reason of hepatic coma in adults. This article is the recapitulation of published studies and their implication on everyday clinical practice.
Hawrot-Kawecka
Anna M
AM
Z Kliniki Chorób Wewnqtrznych i Metabolicznych Slaskiej Akademii Medycznej, Katowicach. hawrotan@poczta.onet.pl
Kawecki
Grzegorz P
GP
Duława
Jan
J
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000209:etiology; D003128:Coma / Q000209:etiology / Q000378:metabolism; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000175:diagnosis* / Q000209:etiology / Q000378:metabolism* / Q000628:therapy; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism* / Q000628:therapy; D010653:Phenylbutazone / Q000627:therapeutic use; D020160:Sodium Benzoate / Q000627:therapeutic use; D014508:Urea / Q000378:metabolism*
D014508:Urea; D010653:Phenylbutazone; D020160:Sodium Benzoate