Medical Knowledge Cockpit methylmalonic aciduria

• Citrate cycle (TCA cycle)
  Homo sapiens (human) 2 genes

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ACSF3

• Acyl-CoA synthetase family member 3, mitochondrial}}</ref> == Function == This gene encodes a member of the [[acetyl������CoA synthetase]] family of enzymes that activate [[fatty acid]]s by catalyzing the formation of a [[thioester]] linkage between fatty acids and [[coenzyme A]]. The encoded protein is localized to [[mitochondria]], has high specificity for [[malonate]] and methylmalonate and possesses malonyl-CoA synthetase activity.<ref name="entrez"/> == Clinical significance == Mutations in this gene have been shown to cause combined malonic and methylmalonic [[aciduria]].<ref name="pmid21785126">{{cite journal

MMACHC

• Late-onset cobalamin-C disorder: a challenging diagnosis

LMBRD1

• Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

ABCD4

• Identification of a fourth half ABC transporter in the human peroxisomal membrane

CD320

• The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

MUT

• Structure-based perspectives on B12-dependent enzymes
• Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature
• Intracellular localization of hepatic propionyl-CoA carboxylase and methylmalonyl-CoA mutase in humans and normal and vitamin B12 deficient rats
• Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria
• Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase

• Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation

MMAA

• Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism

MMAB

• Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant

SUCLA2

• Immunoaffinity profiling of tyrosine phosphorylation in cancer cells
• Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

SUCLG1

• Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion