[Inborn metabolic errors of urea cycle synthesis. Present possibilities of treatment].
The case history of an infant with congenital hyperammonaemia due to inherited ornithine-transcarbamylase deficiency is presented together with some basic data on his family. The metabolic cycle of urea synthesis is delineated with its enzymes and the possible inherited defects. The differential diagnosis of hyperammonaemia in the newborn infant is given. The successful contemporary method of therapy of urea cycle disorders is presented.
Sarnavka
V
V
Klinika za djecje bolesti, Rebro, Medicinski fakultet Sveucilista u Zagrebu.
Gjurić
G
G
Milicić
D
D
Granić
P
P
Mardesić
D
D
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000628:therapy*; D000641:Ammonia / Q000097:blood*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D014508:Urea / Q000378:metabolism*
D000641:Ammonia; D014508:Urea
Prirodene greske u metabolickom ciklusu sinteze ureje. Suvremene mogućnosti lijecenja.