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Page 1
"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 …
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 …
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 …
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 …
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.
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
Maier EM, Mütze U, Janzen N, Steuerwald U, Nennstiel U, Odenwald B, Schuhmann E, Lotz-Havla AS, Weiss KJ, Hammersen J, Weigel C, Thimm E, Grünert SC, Hennermann JB, Freisinger P, Krämer J, Das AM, Illsinger S, Gramer G, Fang-Hoffmann J, Garbade SF, Okun JG, Hoffmann GF, Kölker S, Röschinger W. Maier EM, et al. J Inherit Metab Dis. 2023 Nov;46(6):1043-1062. doi: 10.1002/jimd.12671. Epub 2023 Sep 12. J Inherit Metab Dis. 2023. PMID: 37603033
The majority of tested candidate diseases were found to be suitable for inclusion in NBS programmes, while multiple acyl-CoA dehydrogenase deficiency, isolated methylmalonic acidurias, propionic acidemia and malonyl-CoA decarboxylase deficiency showed …
The majority of tested candidate diseases were found to be suitable for inclusion in NBS programmes, while multiple acyl-CoA dehydrogenase d …
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 asso …
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 …
Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.
Ambati CS, Yuan F, Abu-Elheiga LA, Zhang Y, Shetty V. Ambati CS, et al. J Am Soc Mass Spectrom. 2017 May;28(5):929-938. doi: 10.1007/s13361-017-1631-1. Epub 2017 Mar 17. J Am Soc Mass Spectrom. 2017. PMID: 28315235
As a proof of concept study, we have investigated the levels of malonic acids in mouse plasma with malonyl-CoA decarboxylase deficiency (MCD-D), and we have successfully applied 3NPH method to identify and quantitate all three malonic acids in wild typ …
As a proof of concept study, we have investigated the levels of malonic acids in mouse plasma with malonyl-CoA decarboxylas …
15 results