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.
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).
A quantitative amino acid profile in plasma had no evidente of aminoacidopathy. Organic acids in urine revealed a markedly elevated 4-hydroxyphenylacetic acid level; a finding that has been associated with small bowel disease and bacterial overgrowth syndromes.