[Hyperammonemia in the newborn through ornithine transcarbamylase deficiency (author's transl)].
This is a report of a family with hyperammonemia in the newborn, very probably due to ornithine transcarbamylase deficiency. Typically the male infant died in the newborn period within 74 hours. In the female newborn it was possible to provide a normal development with protein restricted diet. In mother's line there are unexplained death's of infants. The examination of amino acids and organic acids excluded other disturbances. The determination of orotic acid in the urines and oral loading with protein indicated to OTC-deficiency. The RDS-symptomatic and pulmonary bleeding in the newborns with hyperammonemia is emphasized.
D000641:Ammonia / Q000097:blood*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics* / Q000378:metabolism; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D010375:Pedigree; D012730:Sex Chromosomes; D012737:Sex Factors
D000641:Ammonia
Hyperammonämie beim Neugeborenen durch angeborenen Ornithintranscarbamylasemangel.