Fowler, Brian

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EDITORIALMethylmalonic aciduria articlesBrian FowlerPublished online: 16 January 2008# SSIEM and Springer 2008Methylmalonic aciduria can occur to a widely varyingdegree, in isolation or combined with homocystinuriain a range of conditions. These include absorption andtransport disorders or defects of intracellular cellularmetabolism of vitamin B12, nutritional deficiency ofthis vitamin, or genetic defects of methylmalonyl-CoAmutase. Recent advances have elucidated the genesand mutations responsible for most of these disorders.The biochemically and genetically defined methyl-malonic acidurias constitute an important group ofpotentially treatable disorders with still major diag-nostic and management challenges. Furthermore, lesswell defined milder methylmalonic aciduria has re-cently been shown in some cases to be associated withSUCL mutations or methylmalonyl-CoA epimerasedeficiency.It is therefore timely and opportune that the editorsof this Journal have chosen to publish two series ofpapers on this topic.The articles which appear in this issue include thereview BNeurodegeneration and chronic renal failurein methylmalonic aciduria—A pathophysiologicalapproach^ by Marina Morath and colleagues. Thisproposes and examines interesting and plausible hy-potheses on pathogenetic mechanisms about whichlittle is known. The original article BMethylmalonateinhibits succinate-supported oxygen consumption byinterfering with mitochondrial succinate uptake^ bySandra Mirandola and colleagues reports interestingevidence of a possible patho-physiological role ofmethylmalonic acid in inhibition of succinate uptakein rat brain or muscle mitochondria. The originalarticle BMethylmalonic acidaemia: Examination ofgenotype and biochemical data in 32 patients belong-ing to mut, cblA or cblB complementation group^ byBegona Merinero and colleagues reports an interestingcritical comparison of in vivo and in vitro biochemicalparameters with the nature of mutations in differentcomplementation groups.The follow-up series will include mainly reviewarticles (planned for issue 3, 2008) and will cover thefollowing:& Isolated methylmalonic acidurias in Europeanmetabolic centres (Hoerster et al)& A review of the spectrum of MRI changes inmethylmalonic aciduria (Harting et al)& The comprehensive diagnostic approach for thereliable characterization of patients with isolatedmethylmalonic aciduria (Fowler et al)& Present knowledge of potential and experience ofnewborn screening for the methylmalonic acidurias(Lindner et al).We hope this series of articles will provide a solidbasis to underscore further developments in this fieldand will serve to support future much needed prospec-tive studies and recommendations aimed at improvingthe long term outcome of these life-threateningdisorders.J Inherit Metab Dis (2008) 31:4DOI 10.1007/s10545-007-9980-8B. Fowler (*)Metabolic Unit, University Children_s Hospital,Basel CH-4005, Switzerlande-mail: Brian.Fowler@unibas.ch

Methylmalonic aciduria articles

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Methylmalonic aciduria articles

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