Title : Malnutrition with hypoaminoacidemia in a 22-year-old pregnant patient masking a likely ornithine transcarbamylase deficiency.

Pub. Date : 2019 Apr

PMID : 30904234






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1 METHODS: We report the case of a 22-year-old woman"s successful pregnancy with a moderate form of ornithine transcarbamylase (OTC) deficiency, unsuspected before pregnancy, biochemically consistent with plasma aminoacidogram and orotic acid analysis, and initially masked by malnutrition. Orotic Acid ornithine transcarbamylase Homo sapiens
2 METHODS: We report the case of a 22-year-old woman"s successful pregnancy with a moderate form of ornithine transcarbamylase (OTC) deficiency, unsuspected before pregnancy, biochemically consistent with plasma aminoacidogram and orotic acid analysis, and initially masked by malnutrition. Orotic Acid ornithine transcarbamylase Homo sapiens