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Newborn screening for isovaleric acidemia in Quanzhou, China.
Lin Y, Chen D, Peng W, Wang K, Lin W, Zhuang J, Zheng Z, Li M, Fu Q. Lin Y, et al. Clin Chim Acta. 2020 Oct;509:25-29. doi: 10.1016/j.cca.2020.06.010. Epub 2020 Jun 4. Clin Chim Acta. 2020. PMID: 32505769
BACKGROUND: Isovaleric acidemia (IVA) is a rare autosomal recessive disorder of leucine metabolism caused by a defective isovaleryl-CoA dehydrogenase (IVD) gene. ...
BACKGROUND: Isovaleric acidemia (IVA) is a rare autosomal recessive disorder of leucine metabolism caused by a defective isova …
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.
D'Annibale OM, Koppes EA, Alodaib AN, Kochersperger C, Karunanidhi A, Mohsen AW, Vockley J. D'Annibale OM, et al. Mol Genet Metab. 2021 Sep-Oct;134(1-2):29-36. doi: 10.1016/j.ymgme.2021.08.012. Epub 2021 Aug 30. Mol Genet Metab. 2021. PMID: 34535384 Free PMC article.
Follow up sequencing often results in identification of one or more variants of uncertain significance (VUS). Isovaleric acidemia (IVA) is an autosomal recessive inborn error of metabolism caused by deficiency of isovaleryl-CoA dehydrogenase (IVDH) in the Leu catabo …
Follow up sequencing often results in identification of one or more variants of uncertain significance (VUS). Isovaleric acidemia …
Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia.
Ibarra-González I, Fernández-Lainez C, Guillén-López S, López-Mejía L, Belmont-Matínez L, Sokolsky TD, Amin VR, Kitchener RL, Vela-Amieva M, Naylor EW, Bhattacharjee A. Ibarra-González I, et al. Clin Chim Acta. 2020 Feb;501:216-221. doi: 10.1016/j.cca.2019.10.041. Epub 2019 Nov 9. Clin Chim Acta. 2020. PMID: 31707166
Isovaleric acidemia (IVA) is an inborn error of metabolism caused by deficiency of isovaleryl-CoA dehydrogenase. ...
Isovaleric acidemia (IVA) is an inborn error of metabolism caused by deficiency of isovaleryl-CoA dehydrogenase. ...
A Case Report of a Novel Isovaleryl-CoA Dehydrogenase Gene Mutation in a Chinese Family with Isovaleric Acidemia.
Chen W, Miao C, Li Y, Wang X, Wu W, Long Q, Jiang Y, Yan Z, Cui Y. Chen W, et al. Clin Lab. 2023 Sep 1;69(9). doi: 10.7754/Clin.Lab.2023.230331. Clin Lab. 2023. PMID: 37702673
BACKGROUND: Isovaleric acidemia (IVA) is a rare autosomal-recessive metabolic disorder caused by a genetic deficiency of isovaleryl-CoA dehydrogenase (IVD). ...
BACKGROUND: Isovaleric acidemia (IVA) is a rare autosomal-recessive metabolic disorder caused by a genetic deficiency of isova …
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Hobert JA, Liu A, Pasquali M. Hobert JA, et al. Curr Protoc Hum Genet. 2016 Oct 11;91:17.25.1-17.25.12. doi: 10.1002/cphg.19. Curr Protoc Hum Genet. 2016. PMID: 27727436
Quantitative analysis of urine acylglycines has shown to be a highly sensitive and specific method with proven clinical utility for the diagnosis of several inherited metabolic disorders including: medium chain acyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenase de …
Quantitative analysis of urine acylglycines has shown to be a highly sensitive and specific method with proven clinical utility for the diag …
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
Couce ML, Aldamiz-Echevarría L, Bueno MA, Barros P, Belanger-Quintana A, Blasco J, García-Silva MT, Márquez-Armenteros AM, Vitoria I, Vives I, Navarrete R, Fernández-Marmiesse A, Pérez B, Pérez-Cerdá C. Couce ML, et al. J Hum Genet. 2017 Mar;62(3):355-360. doi: 10.1038/jhg.2016.144. Epub 2016 Dec 1. J Hum Genet. 2017. PMID: 27904153
Isovaleric acidemia (IVA) is a rare disorder of leucine metabolism. We carried out a multicenter study of IVA patients diagnosed by newborn screening (NBS) or symptoms clinics over a period of 28 years in Spain. ...
Isovaleric acidemia (IVA) is a rare disorder of leucine metabolism. We carried out a multicenter study of IVA patients diagnos …
Altered immune response in organic acidemia.
Altun I, Kiykim A, Zubarioglu T, Burtecene N, Hopurcuoglu D, Topcu B, Cansever MS, Kiykim E, Cokugras HC, Aktuglu Zeybek AC. Altun I, et al. Pediatr Int. 2022 Jan;64(1):e15082. doi: 10.1111/ped.15082. Pediatr Int. 2022. PMID: 34861062
RESULTS: Of the 33 patients enrolled to the study, 21 (88%) were diagnosed with methylmalonic acidemia, 10 (33%) with propionic acidemia, and two (6.6%) with isovaleric acidemia. The mean age of the patients with OA and healthy subjects were 5.89 4.11 years and 5.34 …
RESULTS: Of the 33 patients enrolled to the study, 21 (88%) were diagnosed with methylmalonic acidemia, 10 (33%) with propionic acidemia, an …
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.
Porta F, Chiesa N, Martinelli D, Spada M. Porta F, et al. J Pediatr Endocrinol Metab. 2019 Feb 25;32(2):101-108. doi: 10.1515/jpem-2018-0311. J Pediatr Endocrinol Metab. 2019. PMID: 30730842 Free article. Review.
As it leads to C5-carnitine (i.e. isovalerylcarnitine, 2methylbutyrilcarnitine, or pivaloylcarnitine) elevation, SBCAD deficiency is detectable at newborn screening, requiring differential diagnosis from isovaleric acidemia and pivalic acid administration. Increased …
As it leads to C5-carnitine (i.e. isovalerylcarnitine, 2methylbutyrilcarnitine, or pivaloylcarnitine) elevation, SBCAD deficiency is detecta …
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Hobert JA, Guymon R, Yuzyuk T, Pasquali M. Hobert JA, et al. Curr Protoc. 2023 Apr;3(4):e758. doi: 10.1002/cpz1.758. Curr Protoc. 2023. PMID: 37099696
Quantitative analysis of urine acylglycines has shown to be a highly sensitive and specific method with proven clinical utility for the diagnosis of several inherited metabolic disorders including: medium chain acyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenase de …
Quantitative analysis of urine acylglycines has shown to be a highly sensitive and specific method with proven clinical utility for the diag …
43 results