aminoacidopathy

aminoacidopathy

 [ah-me″no-as″ĭ-dop´ah-the]
any inborn error of metabolism of amino acids that produces a metabolic block that results in accumulation of one or more amino acids in the blood (aminoacidemia) or excess excretion in the urine (aminoaciduria), or both.

aminoacidopathy

/ami·no·ac·i·dop·a·thy/ (-as″ĭ-dop´ah-the) any of a group of disorders due to a defect in an enzymatic step in the metabolic pathway of one or more amino acids or in a protein mediator necessary for transport of certain amino acids into or out of cells.

aminoacidopathy

[ə·mē′nō·as′id·op′ə·thē]
any of various disorders caused by a defect in an enzymatic step in the metabolic pathway of one or more amino acids or in a protein mediator necessary for transport of an amino acid into or out of a cell.

aminoacidopathy

any inborn error of amino acid metabolism producing a metabolic block that results in accumulation of one or more amino acids in the blood (aminoacidemia) or excess excretion in the urine (aminoaciduria) or both.
References in periodicals archive ?
Although organic aminoacidopathy and acidurias were ruled out, the elevation of the anion gap of lactate and pyruvate, with an elevated lactate-pyruvate ratio > 20 mEq/L, pointed out to mitochondrial disease (24).