Late onset ornithine carbamoyl transferase deficiency in males.
Six boys with ornithine carbamoyl transferase deficiency presenting in infancy or later childhood are described. There was wide variation in both the time of presentation and the symptoms, which may initially suggest a neurological, behavioural, or gastroenterological problem. Two patients died, as did two male siblings who were probably affected, but with early recognition of the hyperammonaemia the outlook is good.
Drogari
E
E
Department of Child Health, Institute of Child Health, London.
Leonard
J V
JV
D000293:Adolescent; D000367:Age Factors; D000641:Ammonia / Q000097:blood; D002648:Child; D002675:Child, Preschool; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009422:Nervous System Diseases / Q000209:etiology; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D013997:Time Factors; D014839:Vomiting / Q000209:etiology; D014960:X Chromosome
D000641:Ammonia