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Page 1
Malonyl coenzyme A decarboxylase deficiency with a novel mutation.
Kasapkara CS, Civelek Ürey B, Ceylan AC, Ünal Uzun Ö, Çetin II. Kasapkara CS, et al. Cardiol Young. 2021 Sep;31(9):1535-1537. doi: 10.1017/S104795112100113X. Epub 2021 Mar 22. Cardiol Young. 2021. PMID: 33745485
So far, 34 cases with different MLYCD gene defects comprising point mutations, stop codons, and frameshift mutations have been reported in the literature. Here, we describe the follow-up of a patient affected by malonic aciduria upon neonatal onset. Molecular analys …
So far, 34 cases with different MLYCD gene defects comprising point mutations, stop codons, and frameshift mutations have been reported in t …
Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review.
Monda E, Bakalakos A, Syrris P, Mohiddin S, Ferdinandusse S, Murphy E, Elliott PM. Monda E, et al. Eur J Med Genet. 2023 Dec;66(12):104885. doi: 10.1016/j.ejmg.2023.104885. Epub 2023 Nov 17. Eur J Med Genet. 2023. PMID: 37979716
BACKGROUND: Malonyl-CoA decarboxylase deficiency (MLYCDD) is an ultra-rare inherited metabolic disorder, characterized by multi-organ involvement manifesting during the first few months of life. ...
BACKGROUND: Malonyl-CoA decarboxylase deficiency (MLYCDD) is an ultra-rare inherited metabolic disorder, charact …
A new case of malonyl-CoA decarboxylase deficiency with mild clinical features.
Liu H, Tan D, Han L, Ye J, Qiu W, Gu X, Zhang H. Liu H, et al. Am J Med Genet A. 2016 May;170A(5):1347-51. doi: 10.1002/ajmg.a.37590. Epub 2016 Feb 9. Am J Med Genet A. 2016. PMID: 26858006
Malonyl-CoA decarboxylase deficiency is an extremely rare autosomal recessive inborn error of fatty acid metabolism. ...Malonyl-CoA decarboxylase deficiency was then confirmed by acylcarnitine analysis and organic acid analy …
Malonyl-CoA decarboxylase deficiency is an extremely rare autosomal recessive inborn error of fatty acid metabol …
A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review.
Zhao C, Peng H, Jiang N, Liu Y, Chen Y, Liu J, Guo Q, Wu Z, Wang L. Zhao C, et al. Front Pediatr. 2023 Apr 17;11:1133134. doi: 10.3389/fped.2023.1133134. eCollection 2023. Front Pediatr. 2023. PMID: 37144154 Free PMC article.
METHODS: We collected and analyzed a patient's clinical characteristics, genetic chain of evidence and RNA-seq. We use the search term "Malonyl-CoA Decarboxylase Deficiency" on Pubmed to collect cases reported. ...
METHODS: We collected and analyzed a patient's clinical characteristics, genetic chain of evidence and RNA-seq. We use the search term "M …
MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency.
Sacksteder KA, Morrell JC, Wanders RJ, Matalon R, Gould SJ. Sacksteder KA, et al. J Biol Chem. 1999 Aug 27;274(35):24461-8. doi: 10.1074/jbc.274.35.24461. J Biol Chem. 1999. PMID: 10455107 Free article.
Malonyl-CoA decarboxylase (MCD) catalyzes the proton-consuming conversion of malonyl-CoA to acetyl-CoA and CO(2). Although defects in MCD activity are associated with malonyl-CoA decarboxylase deficiency, a lethal disorder characterized by cardiomyopat …
Malonyl-CoA decarboxylase (MCD) catalyzes the proton-consuming conversion of malonyl-CoA to acetyl-CoA and CO(2). Although defects in MCD ac …
Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.
Chapel-Crespo C, Gavrilov D, Sowa M, Myers J, Day-Salvatore DL, Lynn H, Regier D, Starin D, Steenari M, Schoonderwoerd K, Abdenur JE. Chapel-Crespo C, et al. Mol Genet Metab. 2019 Sep-Oct;128(1-2):113-121. doi: 10.1016/j.ymgme.2019.07.015. Epub 2019 Jul 29. Mol Genet Metab. 2019. PMID: 31395333 Free article. No abstract available.
Malonic aciduria.
Ozand PT, Nyhan WL, al Aqeel A, Christodoulou J. Ozand PT, et al. Brain Dev. 1994 Nov;16 Suppl:7-11. doi: 10.1016/0387-7604(94)90091-4. Brain Dev. 1994. PMID: 7537025
Three infants with malonic aciduria are reported, one of whom could be studied in detail. ...The biochemical pathology of this variant malonic aciduria is unknown....
Three infants with malonic aciduria are reported, one of whom could be studied in detail. ...The biochemical pathology of this …
59 results