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Page 1
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 …
Clinical, biochemical and genetic characteristics and long-term follow-up of five patients with malonyl-CoA decarboxylase deficiency.
Zhang JM, Hao LL, Qiu WJ, Zhang HW, Chen T, Ji WJ, Zhang Y, Liu F, Gu XF, Yang SH, Han LS. Zhang JM, et al. Brain Dev. 2024 Oct;46(9):286-293. doi: 10.1016/j.braindev.2024.07.001. Epub 2024 Jul 27. Brain Dev. 2024. PMID: 39069445 Free article.
BACKGROUND: Malonyl-CoA decarboxylase (MLYCD) deficiency, also known as malonic aciduria (MAD), is a rare autosomal recessive inherited metabolic defect. In this study, we aimed to investigate the clinical and molecular features of five patients with MAD in order to …
BACKGROUND: Malonyl-CoA decarboxylase (MLYCD) deficiency, also known as malonic aciduria (MAD), is a rare autosomal recessive …
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
Here, we describe the follow-up of a patient affected by malonic aciduria upon neonatal onset. Molecular analysis showed novel homozygous mutations in the MLYCD gene. ...
Here, we describe the follow-up of a patient affected by malonic aciduria upon neonatal onset. Molecular analysis showed novel …
"Classical organic acidurias": diagnosis and pathogenesis.
Villani GR, Gallo G, Scolamiero E, Salvatore F, Ruoppolo M. Villani GR, et al. Clin Exp Med. 2017 Aug;17(3):305-323. doi: 10.1007/s10238-016-0435-0. Epub 2016 Sep 9. Clin Exp Med. 2017. PMID: 27613073 Review.
Collectively, their incidence approximates 1 out of 3000 live births. Among these disorders, methyl malonic aciduria, propionic aciduria, maple syrup urine disease and isovaleric aciduria are sometimes referred to as classical organic acidurias. ...
Collectively, their incidence approximates 1 out of 3000 live births. Among these disorders, methyl malonic aciduria, propioni …
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 …
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.
Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran.
Moravej H, Inaloo S, Nahid S, Mazloumi S, Nemati H, Moosavian T, Nasiri J, Ghasemi F, Alaei MR, Dalili S, Aminzadeh M, Katibeh P, Amirhakimi A, Yazdani N, Ilkhanipoor H, Afshar Z, Hadipour F, Hadipour Z. Moravej H, et al. Indian Pediatr. 2023 Mar 15;60(3):193-196. Epub 2023 Jan 2. Indian Pediatr. 2023. PMID: 36604934 Free article.
Five patients (4.8%) had cerebral creatine deficiency syndrome, 4 (3.8%) had arginine succinate aciduria, 2- methylbutyryl glycinuria, short-chain acyl-CoA dehydrogenase deficiency, and combined methylmalonic aciduria/malonic aciduria. There was a strong association …
Five patients (4.8%) had cerebral creatine deficiency syndrome, 4 (3.8%) had arginine succinate aciduria, 2- methylbutyryl glycinuria, short …
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
Snanoudj S, Torre S, Sudrié-Arnaud B, Abily-Donval L, Goldenberg A, Salomons GS, Marret S, Bekri S, Tebani A. Snanoudj S, et al. Int J Mol Sci. 2021 Nov 23;22(23):12633. doi: 10.3390/ijms222312633. Int J Mol Sci. 2021. PMID: 34884438 Free PMC article.
Malonic aciduria is an extremely rare inborn error of metabolism due to malonyl-CoA decarboxylase deficiency. ...These two cases and reported patients in the literature highlight the inter- and intrafamilial variability of malonic …
Malonic aciduria is an extremely rare inborn error of metabolism due to malonyl-CoA decarboxylase defi …
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Sumathipala D, Strømme P, Fattahi Z, Lüders T, Sheng Y, Kahrizi K, Einarsen IH, Sloan JL, Najmabadi H, van den Heuvel L, Wevers RA, Guerrero-Castillo S, Mørkrid L, Valayannopoulos V, Backe PH, Venditti CP, van Karnebeek CD, Nilsen H, Frengen E, Misceo D. Sumathipala D, et al. Brain. 2022 Jul 29;145(7):2602-2616. doi: 10.1093/brain/awac034. Brain. 2022. PMID: 35104841 Free PMC article.
17 results