Annals of Internal Medicine · 1987 · 35 citations · 11 references
Life SciencesGeneticsNeurologyHuman GeneticsNeurogeneticsPediatric GeneticsAmino Acid Metabolism DisordersEnzyme DeficienciesGenetic DisordersInborn Errors Of MetabolismUrea CycleUrea Cycle DisordersAdult-onset Enzyme DeficiencyAutosomal Recessive InheritanceFocal Neurological DeficitsInborn Errors Of Urea Cycle MetabolismNeurologic DeficitsOrnithine Transcarbamylase DeficiencySymptomatic PresentationX-linked Recessive Inheritance
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.
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