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Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.

Molecular genetics and metabolism - 1 Mar 2007

Lempp Thomas J, Suormala Terttu, Siegenthaler Renate, Baumgartner E Regula, Fowler Brian, Steinmann Beat, Baumgartner Matthias R

Abstract excerpt

Isolated methylmalonic acidurias (MMA-urias) comprise a group of rare autosomal recessively inherited disorders characterised by accumulation of MMA in urine and other body fluids, resulting from deficient activity of the mitochondrial enzyme methylmalonyl-CoA mutase (MCM). Isolated MMA-uria results from either MCM apoenzyme defects (mut(0) and mut(-)) or defects in synthesis of its cofactor...

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PMID: 17113806
DOI: 10.1016/j.ymgme.2006.10.002

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