Pregunta:
Ornithine transcarbmylase (OCT) defiency (problems with urea cycle
Autor: Satvika SinhaRespuesta:
Severe defect in the urea cycle Severe urea cycle disorders → symptoms within 1 day of birth. If untreated child will die. • Mild urea cycle enzyme deficiencies may not show symptoms until early childhood Management: Low protein diet Replace amino acids in diet with keto acids Severity depends on: nature of defect and amount of protein eaten.
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