Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA c
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(2019) 14:84
REVIEW
Open Access
Systematic literature review and metaanalysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonylCoA mutase (mut) deficiency Tímea Almási1* , Lin T. Guey2, Christine Lukacs2, Kata Csetneki1, Zoltán Vokó1,3 and Tamás Zelei1
Abstract Methylmalonic acidemia/aciduria (MMA) is a genetically heterogeneous group of inherited metabolic disorders biochemically characterized by the accumulation of methylmalonic acid. Isolated MMA is primarily caused by the deficiency of methylmalonyl-CoA mutase (MMA mut; EC 5.4.99.2). A systematic literature review and a meta-analysis were undertaken to assess and compile published epidemiological data on MMA with a focus on the MMA mut subtype (OMIM #251000). Of the 1114 identified records, 227 papers were assessed for eligibility in full text, 48 articles reported on disease epidemiology, and 39 articles were included into the quantitative synthesis. Implementation of newborn screening in various countries has allowed for the estimation of birth prevalence of MMA and its isolated form. Meta-analysis pooled point estimates of MMA (all types) detection rates were 0.79, 1.12, 1.22 and 6.04 per 100,000 newborns in Asia-Pacific, Europe, North America and the Middle East and North Africa (MENA) regions, respectively. The detection rate of isolated MMA was < 1 per 100,000 newborns in all regions with the exception of MENA where it approached 6 per 100,000 newborns. Few studies published data on the epidemiology of MMA mut, therefore no meta-analysis could have been performed on this subtype. Most of the identified papers reported birth prevalence estimates below 1 per 100,000 newborns for MMA mut. The systematic literature review clearly demonstrates that MMA and its subtypes are ultra-rare disorders. Keywords: Inherited metabolic disorder, Methylmalonic acidemia/aciduria, Methylmalonyl-CoA mutase deficiency, Epidemiology, Meta-analysis, Newborn screening
Background Methylmalonic acidemia or aciduria (MMA) is a genetically heterogeneous group of disorders originating from impaired metabolism of certain amino acids (isoleucine, methionine, threonine, or valine), odd-chain fatty acids or cholesterol esters. MMA is biochemically characterized by the accumulation of methylmalonic acid in all body fluids and tissues [1]. Two main forms can be distinguished: isolated MMA and combined MMA. The isolated form may be caused by a complete or partial deficiency of the enzyme methylmalonyl-coenzyme A * Correspondence: [email protected] 1 Syreon Research Institute, Mexikói str. 65/A, Budapest H-1142, Hungary Full list of author information is available at the end of the article
(CoA) mutase (mut; mut0 enzymatic subtype or mut− enzymatic subtype, respectively) (EC 5.4.99.2) (Online Mendelian Inheritance in Man (OMIM) number *609058), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, cblD-MMA, cblH), or by a deficiency of the enzyme methylmalonylCoA epimerase [2]. Combined MMA presents with
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