Methylmalonyl-CoA mutase deficiency

Methylmalonyl-CoA mutase deficiency
Classification and external resources
OMIM	251000
DiseasesDB	29509

Methylmalonyl-CoA mutase deficiency ("MUT") is an inborn error of organic acid metabolism. It is one of the 29 conditions currently recommended for newborn screening by the American College of Medical Genetics.

Symptoms include: failure to thrive, vomiting, dehydration, developmental delay, and seizures.

An accumulation of propionyl CoA, a substrate for a TCA cycle enzyme, and of citrate synthase, leading to an accumulation of methyl citrate (a TCA toxin) accompanies the lack of methylmalonyl CoA mutase.

It is a form of Methylmalonic acidemia.

See also

• Methylmalonyl-CoA mutase

External links

• Methylmalonyl-CoA mutase deficiency at NLM Genetics Home Reference

This article about an endocrine, nutritional or metabolic disease is a stub. You can help Wikipedia by expanding it.v · Categories: Amino acid metabolism disorders Endocrine, nutritional and metabolic disease stubs Wikimedia Foundation. 2010. Игры ⚽ Нужно сделать НИР? London League Doris Schröder-Köpf Look at other dictionaries: Methylmalonyl-CoA mutase — Rendering based on PDB 2XIJ …   Wikipedia methylmalonyl-CoA mutase — meth·yl·mal·o·nyl CoA mu·tase (meth″əl malґə nəl ko aґ muґtās) [EC 5.4.99.2] an enzyme of the isomerase class that catalyzes the isomerization of L methylmalonyl coenzyme A to succinyl coenzyme A, requiring… …   Medical dictionary methylmalonyl-CoA — An intermediate in the degradation of several metabolites ( e.g., valine, methionine, odd chain fatty acid s, theronine); elevated in cases of pernicious anemia. methylmalonyl CoA epimerase an enzyme that catalyzes the interconversion …   Medical dictionary 3-Methylcrotonyl-CoA carboxylase deficiency — Classification and external resources Methylcrotonyl CoA OMIM 210200 …   Wikipedia Ornithine transcarbamylase deficiency — Classification and external resources Ornithine ICD 10 E …   Wikipedia Beta-ketothiolase deficiency — Classification and external resources Isoleucine OMIM 203750 …   Wikipedia N-Acetylglutamate synthase deficiency — Classification and external resources N Acetylglutamic acid OMIM 237310 …   Wikipedia Glutathione synthetase deficiency — Classification and external resources Glutathione OMIM 266130 …   Wikipedia Ornithine translocase deficiency — Classification and external resources Ornithine ICD 9 …   Wikipedia Guanidinoacetate methyltransferase deficiency — Classification and external resources Glycocyamine OMIM 601240 …   Wikipedia 18+ © Academic, 2000-2024 Contact us: Technical Support, Advertising Dictionaries export, created on PHP, Joomla, Drupal, WordPress, MODx. Mark and share Search through all dictionaries Translate… Search Internet Share the article and excerpts Direct link … Do a right-click on the link above and select “Copy Link”