%0 Journal Article %1 hörster.baumgartner.ea:long-term %A Hörster, Friederike %A Baumgartner, Matthias R %A Viardot, Caroline %A Suormala, Terttu %A Burgard, Peter %A Fowler, Brian %A Hoffmann, Georg F %A Garbade, Sven F %A Kölker, Stefan %A Baumgartner, E. Regula %D 2007 %J Pediatr Res %K 12, Acid Acid, Adolescent; Adult; Age Alkyl Amino Aryl B Child; Chronic, Cobamides, Complex, Disease Disease; Diseases, Errors, Estimate; Factors; Failure, Female; Follow-Up Gastrointestinal Genetic Humans; Inborn Kaplan-Meiers Kidney Male; Membrane Metabolism, Methylmalonic Methylmalonyl-CoA Mitochondrial Mutase, Mutation; Nervous Onset; Predisposition Prognosis; Progression; Prospective Proteins, Studies; System Time Transferases, Transport Vitamin and complications/drug etiology; genetics/metabolism; metabolism/urine; metabolism; of sfg therapeutic therapy/enzymology/genetics/mortality; to use use; %N 2 %P 225--230 %R 10.1203/PDR.0b013e3180a0325f %T Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). %U http://dx.doi.org/10.1203/PDR.0b013e3180a0325f %V 62 %X Isolated methylmalonic acidurias comprise a heterogeneous group of inborn errors of metabolism caused by defects of methylmalonyl-CoA mutase (MCM) (mut0, mut-) or deficient synthesis of its cofactor 5'-deoxyadenosylcobalamin (AdoCbl) (cblA, cblB). The aim of this study was to compare the long-term outcome in patients from these four enzymatic subgroups. Eighty-three patients with isolated methylmalonic acidurias (age 7-33 y) born between 1971 and 1997 were enzymatically characterized and prospectively followed to evaluate the long-term outcome (median follow-up period, 18 y). Patients with mut0 (n = 42), mut- (n = 10), cblA (n = 20), and cblB (n = 11) defects were included into the study. Thirty patients (37\%) died, and 26 patients survived with a severe or moderate neurologic handicap (31\%), whereas 27 patients (32\%) remained neurologically uncompromised. Chronic renal failure (CRF) was found most frequently in mut0 (61\%) and cblB patients (66\%), and was predicted by the urinary excretion of methylmalonic acid (MMA) before CRF. Overall, patients with mut0 and cblB defects had an earlier onset of symptoms, a higher frequency of complications and deaths, and a more pronounced urinary excretion of MMA than those with mut- and cblA defects. In addition, long-term outcome was dependent on the age cohort and cobalamin responsiveness.

@article{hörster.baumgartner.ea:long-term, abstract = {Isolated methylmalonic acidurias comprise a heterogeneous group of inborn errors of metabolism caused by defects of methylmalonyl-CoA mutase (MCM) (mut0, mut-) or deficient synthesis of its cofactor 5'-deoxyadenosylcobalamin (AdoCbl) (cblA, cblB). The aim of this study was to compare the long-term outcome in patients from these four enzymatic subgroups. Eighty-three patients with isolated methylmalonic acidurias (age 7-33 y) born between 1971 and 1997 were enzymatically characterized and prospectively followed to evaluate the long-term outcome (median follow-up period, 18 y). Patients with mut0 (n = 42), mut- (n = 10), cblA (n = 20), and cblB (n = 11) defects were included into the study. Thirty patients (37\%) died, and 26 patients survived with a severe or moderate neurologic handicap (31\%), whereas 27 patients (32\%) remained neurologically uncompromised. Chronic renal failure (CRF) was found most frequently in mut0 (61\%) and cblB patients (66\%), and was predicted by the urinary excretion of methylmalonic acid (MMA) before CRF. Overall, patients with mut0 and cblB defects had an earlier onset of symptoms, a higher frequency of complications and deaths, and a more pronounced urinary excretion of MMA than those with mut- and cblA defects. In addition, long-term outcome was dependent on the age cohort and cobalamin responsiveness.}, added-at = {2017-04-01T10:34:58.000+0200}, author = {Hörster, Friederike and Baumgartner, Matthias R and Viardot, Caroline and Suormala, Terttu and Burgard, Peter and Fowler, Brian and Hoffmann, Georg F and Garbade, Sven F and Kölker, Stefan and Baumgartner, E. Regula}, biburl = {https://www.bibsonomy.org/bibtex/21522da3ab2b60a986d4d9e8f60d140c6/sveng}, doi = {10.1203/PDR.0b013e3180a0325f}, institution = {Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children's Hospital, D-69120 Heidelberg, Germany. Friederike.Hoerster@med.uni-heidelberg.de}, interhash = {6c68c046ab9cd5acb0ed96d20d8ef5f8}, intrahash = {1522da3ab2b60a986d4d9e8f60d140c6}, journal = {Pediatr Res}, keywords = {12, Acid Acid, Adolescent; Adult; Age Alkyl Amino Aryl B Child; Chronic, Cobamides, Complex, Disease Disease; Diseases, Errors, Estimate; Factors; Failure, Female; Follow-Up Gastrointestinal Genetic Humans; Inborn Kaplan-Meiers Kidney Male; Membrane Metabolism, Methylmalonic Methylmalonyl-CoA Mitochondrial Mutase, Mutation; Nervous Onset; Predisposition Prognosis; Progression; Prospective Proteins, Studies; System Time Transferases, Transport Vitamin and complications/drug etiology; genetics/metabolism; metabolism/urine; metabolism; of sfg therapeutic therapy/enzymology/genetics/mortality; to use use;}, month = Aug, number = 2, owner = {sfg}, pages = {225--230}, pmid = {17597648}, timestamp = {2017-04-01T10:35:16.000+0200}, title = {Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).}, url = {http://dx.doi.org/10.1203/PDR.0b013e3180a0325f}, volume = 62, year = 2007 }