medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
a defect in mitochondrial beta oxidation due to a mutation in the gene (locus: 1p31) encoding acyl-CoA dehydrogenase that acts on medium chain length fatty acids. It is characterized by recurring episodes of hypoglycemia, vomiting, and lethargy, with urinary excretion of medium-chain dicarboxylic acids, minimal ketogenesis, and low plasma and tissue levels of carnitine.

Medical dictionary. 2011.

Игры ⚽ Нужно сделать НИР?

Look at other dictionaries:

  • Medium-Chain-Acyl-CoA-Dehydrogenase-Mangel — Klassifikation nach ICD 10 E71.3 Störungen des Fettsäurestoffwechsels …   Deutsch Wikipedia

  • Medium-chain acyl-coenzyme A dehydrogenase deficiency — (MCAD) Classification and external resources ICD 9 277.85 OMIM 201450 …   Wikipedia

  • MCAD deficiency — MCAD de·fi·cien·cy medium chain acyl CoA dehydrogenase deficiency; see under acyl CoA dehydrogenase …   Medical dictionary

  • deficiency — An insufficient quantity of some substance (as in dietary d. or hemoglobin d. in marrow aplasia); organization (as in mental d.); activity (as in enzyme d. or reduced oxygen carrying capacity of the blood), etc., of which the amount present is of …   Medical dictionary

  • MCAD — abbr. and/or acronym. Medium chain acyl CoA dehydrogenase deficiency …   American Life League. Abbreviations and acronyms

  • ДЕФЕКТЫ АЦИЛ-КОА ДЕГИДРОГЕНАЗ — мед. К ацил КоА дегидрогеназам, осуществляющим р окисление в митохондриях, отнесён ряд ферментов. Врождённые дефекты митохондриального р окисления недостаточность ацил КоА дегидрогеназ (все р): короткоцепочечной (201470, SCAD), среднецепочечной… …   Справочник по болезням

  • Newborn screening — See also: Apgar score Newborn screening Intervention MeSH D015997 Newborn screening is the process by which infants are screened shortly after birth for a list of disorders that are treatable, but di …   Wikipedia

  • metabolic disease — ▪ pathology Introduction       any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… …   Universalium

  • Inborn error of lipid metabolism — Classification and external resources Several fatty acid molecules ICD 10 E75 …   Wikipedia

  • Inborn errors of lipid metabolism — ICD9|277.85 ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D008052 Numerous genetic disorders are caused by errors in fatty acid metabolism. These disorders may be described as fatty oxidation disorders or as a lipid… …   Wikipedia

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”