aminoacidopathy


aminoacidopathy
n.

* * *

ami·no·ac·i·dop·a·thy (ə-me″no-as″ĭ-dopґə-the) any of a group of inborn errors of metabolism caused by defects in enzymatic steps 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.

Medical dictionary. 2011.

Look at other dictionaries:

  • aminoacidopathy — n.; see maple syrup urine disease, methylmalonic aciduria …   The new mediacal dictionary

  • maple syrup urine disease — (aminoacidopathy) an inborn defect of amino acid metabolism causing an excess of valine, leucine, isoleucine, and alloisoleucine in the urine, which has an odour like maple syrup. Treatment is dietary; if untreated, the condition leads to mental… …   Medical dictionary

  • maple syrup urine disease — aminoacidopathy an inborn defect of amino acid metabolism causing an excess of valine, leucine, isoleucine, and alloisoleucine in the urine, which has an odour like maple syrup. Treatment is dietary; if untreated, the condition leads to mental… …   The new mediacal dictionary

  • List of diseases (M) — A list of diseases in the English wikipedia.DiseasesTOC MaMac* Mac Ardle disease * Mac Dermot Patton Williams syndrome * Mac Dermot Winter syndromeMaci Macr* Macias Flores Garcia Cruz Rivera syndrome * Mackay Shek Carr syndrome * Macleod Fraser… …   Wikipedia

  • argininosuccinicaciduria — A disorder of urea cycle due to a deficiency of argininosuccinate lyase; characterized by physical and mental retardation, epilepsy, ataxia, liver disease …   Medical dictionary

  • cystathioninuria — A disorder characterized by inability to metabolize cystathionine, normally due to deficiency of cystathionase, with high concentration of the amino acid in blood, tissue, and urine; mental r …   Medical dictionary

  • histidinemia — A metabolic disorder characterized by speech defects, growth deficiency, and mild mental retardation in some patients; associated with elevation of blood histidine level and excretion of …   Medical dictionary

  • homocarnosinosis — An inborn error in metabolism in which homocarnosine levels are elevated, particularly in the cerebral spinal fluid. * * * ho·mo·car·no·sin·o·sis (ho″mo kahr″no sĭ noґsis) an autosomal recessive aminoacidopathy characterized by… …   Medical dictionary

  • hydroxyprolinemia — A metabolic disorder characterized by mental retardation and microscopic hematuria in some patients; associated with enhanced plasma concentration and urinary excretion of free hydroxyproline because of a deficiency of hydroxyproline …   Medical dictionary

  • hyperlysinemia — A metabolic disorder characterized by mental retardation, convulsions, anemia, and asthenia; associated with an abnormal increase of the amino acid lysine in the circulating blood due to a deficiency …   Medical dictionary