Ornithine transcarbamylase deficiency: adult onset of severe symptoms.
Deficiency of ornithine transcarbamylase, an enzyme in the urea cycle, results in hyperammonemia. The X-linked recessive inheritance results in neonatal death of affected males but a variable symptomatic pattern in females, with onset of symptoms in childhood. We report the cases of two heterozygous women with onset of severe symptoms (encephalopathy and focal neurologic deficits) in adulthood.
D000328:Adult; D000641:Ammonia / Q000097:blood; D001928:Brain Diseases, Metabolic / Q000209:etiology; D005260:Female; D006429:Hemiplegia / Q000209:etiology; D006579:Heterozygote; D006801:Humans; D001523:Mental Disorders / Q000209:etiology; D008881:Migraine Disorders / Q000209:etiology; D020163:Ornithine Carbamoyltransferase Deficiency Disease
D000641:Ammonia