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Page 1
Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemia.
Venturoni LE, Venditti CP. Venturoni LE, et al. J Inherit Metab Dis. 2022 Sep;45(5):872-888. doi: 10.1002/jimd.12534. Epub 2022 Jul 21. J Inherit Metab Dis. 2022. PMID: 35766386 Review.
Hereditary methylmalonic acidemia (MMA) caused by deficiency of the enzyme methylmalonyl-CoA mutase (MMUT) is a relatively common and severe organic acidemia. ...Here, we review pre-clinical studies that present alternative approaches to solid organ transplantation …
Hereditary methylmalonic acidemia (MMA) caused by deficiency of the enzyme methylmalonyl-CoA mutase (MMUT) is a relatively com …
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.
Schnabel E, Kölker S, Gleich F, Feyh P, Hörster F, Haas D, Fang-Hoffmann J, Morath M, Gramer G, Röschinger W, Garbade SF, Hoffmann GF, Okun JG, Mütze U. Schnabel E, et al. Nutrients. 2023 Jul 28;15(15):3355. doi: 10.3390/nu15153355. Nutrients. 2023. PMID: 37571294 Free PMC article.
In 548,707 newborns, the combined algorithm was applied and led to positive NBS results in 458 of them. ...Three individuals were cofactor-responsive (methylmalonic acidurias: 2, CBS deficiency: 1), and could be treated by vitamin B(12), vitamin B(6) respectively, only. In …
In 548,707 newborns, the combined algorithm was applied and led to positive NBS results in 458 of them. ...Three individuals were cof …
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
Carrillo-Carrasco N, Chandler RJ, Venditti CP. Carrillo-Carrasco N, et al. J Inherit Metab Dis. 2012 Jan;35(1):91-102. doi: 10.1007/s10545-011-9364-y. Epub 2011 Jul 12. J Inherit Metab Dis. 2012. PMID: 21748409 Free PMC article. Review.
Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of intracellular cobalamin metabolism with a wide spectrum of clinical manifestations that is stated to be the most common inherited disorder of cobalamin metabolism. ...
Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of intracellular cobalamin metabolism …
Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia.
Wang F, Liang L, Ling S, Yu Y, Chen T, Xu F, Gong Z, Han L. Wang F, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022 Jun 25;51(3):298-305. doi: 10.3724/zdxbyxb-2022-0194. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022. PMID: 36207831 Free PMC article. English.
OBJECTIVE: To investigate the clinical and genetic characteristics of infants with cobalamin (cbl) X type of methylmalonic acidemia (MMA). METHODS: The clinical data of 5 infants with cblX type of MMA diagnosed in Xinhua Hospital Affiliated to Shanghai Jiao Tong Uni …
OBJECTIVE: To investigate the clinical and genetic characteristics of infants with cobalamin (cbl) X type of methylmalonic acidemi …
Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria.
Liu Y, Chen Z, Kang L, He R, Song J, Liu Y, Shi C, Chen J, Dong H, Zhang Y, Ma Y, Wu T, Wang Q, Ding Y, Li X, Li D, Li M, Jin Y, Qin J, Yang Y. Liu Y, et al. PLoS One. 2022 Mar 31;17(3):e0265766. doi: 10.1371/journal.pone.0265766. eCollection 2022. PLoS One. 2022. PMID: 35358224 Free PMC article.
Further, tHcy is recommended for the prenatal diagnosis of combined MMA and homocysteinemia....
Further, tHcy is recommended for the prenatal diagnosis of combined MMA and homocysteinemia....
Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type.
Chen T, Liang L, Zhang H, Ye J, Qiu W, Xiao B, Zhu H, Wang L, Xu F, Gong Z, Gu X, Han L. Chen T, et al. Orphanet J Rare Dis. 2021 Mar 10;16(1):125. doi: 10.1186/s13023-021-01762-z. Orphanet J Rare Dis. 2021. PMID: 33691766 Free PMC article.
BACKGROUND: Combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC defect) is the most common inborn error of cobalamin metabolism, and different approaches have been applied to its prenatal diagnosis. ...CONCLUSIONS: Hcy appears to be ano …
BACKGROUND: Combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC defect) is the most common inbor …
Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.
Morel CF, Watkins D, Scott P, Rinaldo P, Rosenblatt DS. Morel CF, et al. Mol Genet Metab. 2005 Sep-Oct;86(1-2):160-71. doi: 10.1016/j.ymgme.2005.07.018. Mol Genet Metab. 2005. PMID: 16150626
Studies were performed on amniotic fluid, cultured chorionic villus cells (CCVC), cultured amniocytes (CA), or various combinations of these three types of sample. Analyses done include propionate and methyltetrahydrofolate incorporation into protein and cobalamin cofactor …
Studies were performed on amniotic fluid, cultured chorionic villus cells (CCVC), cultured amniocytes (CA), or various combinations o …
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
Monostori P, Klinke G, Richter S, Baráth Á, Fingerhut R, Baumgartner MR, Kölker S, Hoffmann GF, Gramer G, Okun JG. Monostori P, et al. PLoS One. 2017 Sep 15;12(9):e0184897. doi: 10.1371/journal.pone.0184897. eCollection 2017. PLoS One. 2017. PMID: 28915261 Free PMC article.
BACKGROUND AND AIMS: Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relatively …
BACKGROUND AND AIMS: Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders inc …
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Carrozzo R, et al. J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16. J Inherit Metab Dis. 2016. PMID: 26475597
Analysis of respiratory chain enzyme activities in muscle generally showed a combined deficiency of complexes I and IV, but normal histological and biochemical findings in muscle did not preclude a diagnosis of succinate-CoA ligase deficiency. ...
Analysis of respiratory chain enzyme activities in muscle generally showed a combined deficiency of complexes I and IV, but normal hi …
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Weisfeld-Adams JD, Morrissey MA, Kirmse BM, Salveson BR, Wasserstein MP, McGuire PJ, Sunny S, Cohen-Pfeffer JL, Yu C, Caggana M, Diaz GA. Weisfeld-Adams JD, et al. Mol Genet Metab. 2010 Feb;99(2):116-23. doi: 10.1016/j.ymgme.2009.09.008. Epub 2009 Sep 27. Mol Genet Metab. 2010. PMID: 19836982 Free PMC article.
INTRODUCTION: Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B(12) metabolism caused by mutations in MMACHC. ...Treatment with hydroxocobalamin may ameliorate the clinical features of early-onset disease and …
INTRODUCTION: Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B(12) …