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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups

Fig. 1

Metabolic pathway of propionyl-CoA and methylmalonyl-CoA. Methylmalonic acidemia (MMA, MIM#251000) is caused either by a defect in methylmalonyl coenzyme A mutase (MUT, encoded by the mut gene, on chromosome 6p12.3) or by a defect in the uptake, transport or synthesis of 5’-deoxyadenosylcobalamin (AdoCbl). A disruption of the synthesis of AdoCbl is attributable either to a defect in cblA (251100), which is caused by a mutation in the MMAA gene located on chromosome 4q31, or to a defect in cblB (251110), which is caused by a mutation in the MMAB gene located on chromosome 12q24. Combined methylmalonic acidemia and homocystinuria occurs in individuals with mutations in cblC (277,400, MMACHC gene, located on chromosome 1p34), cblD (277,410, MMADHC gene, located on chromosome 2q23), and cblF (277380). Propionic acidemia (PA MIM#606054, is caused by deficiency in propionyl-CoA carboxylase (PCC), a biotin-dependent carboxylase that is present in the mitochondrial matrix. This enzyme is composed by two subunits, which are encoded by pccA, located on chromosome 3q22. 3 and pccB, located on chromosome 13q32.3

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172