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Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China.
Cheng Y, Chen P, Yu Z, Yin X, Zhang C, Miao H, Huang X. Cheng Y, et al. Clin Chim Acta. 2023 Mar 1;542:117266. doi: 10.1016/j.cca.2023.117266. Epub 2023 Feb 21. Clin Chim Acta. 2023. PMID: 36822454
BACKGROUND: 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an autosomal recessive inborn defect of leucine catabolism caused by MCCC1 or MCCC2 variants. 3-MCCD is considered to be a relatively benign disorder with favorable outcome. ...
BACKGROUND: 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an autosomal recessive inborn defect …
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
Fonseca H, Azevedo L, Serrano C, Sousa C, Marcão A, Vilarinho L. Fonseca H, et al. Gene. 2016 Dec 15;594(2):203-210. doi: 10.1016/j.gene.2016.09.003. Epub 2016 Sep 4. Gene. 2016. PMID: 27601257
The deficiency of 3-methycrotonyl-CoA carboxylase (3-MCC; EC 6.4.1.4) is an autosomal recessive organic aciduria that is included in the newborn screening programs of several countries. ...These mutations are discussed in the context of their likely impact on the fu …
The deficiency of 3-methycrotonyl-CoA carboxylase (3-MCC; EC 6.4.1.4) is an autosomal recessive organic aciduria that is inclu …
3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
Wang H, Liu S, Wang B, Yang Y, Yu B, Wang L, Wang T. Wang H, et al. J Pediatr Endocrinol Metab. 2019 Dec 18;32(12):1321-1326. doi: 10.1515/jpem-2018-0536. J Pediatr Endocrinol Metab. 2019. PMID: 31730530
Objective To evaluate whether 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) should be routinely screened in newborns. ...
Objective To evaluate whether 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) should be routinely sc …
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.
Rips J, Almashanu S, Mandel H, Josephsberg S, Lerman-Sagie T, Zerem A, Podeh B, Anikster Y, Shaag A, Luder A, Staretz Chacham O, Spiegel R. Rips J, et al. J Inherit Metab Dis. 2016 Mar;39(2):211-7. doi: 10.1007/s10545-015-9899-4. Epub 2015 Nov 13. J Inherit Metab Dis. 2016. PMID: 26566957
BACKGROUND: 3-Methylcrotonyl-CoA carboxylase deficiency (3MCCD) is an inborn error of leucine catabolism. ...
BACKGROUND: 3-Methylcrotonyl-CoA carboxylase deficiency (3MCCD) is an inborn error of leucine catabolism. …
A 3-methylcrotonyl-CoA carboxylase deficient human skin fibroblast transcriptome reveals underlying mitochondrial dysfunction and oxidative stress.
Zandberg L, van Dyk HC, van der Westhuizen FH, van Dijk AA. Zandberg L, et al. Int J Biochem Cell Biol. 2016 Sep;78:116-129. doi: 10.1016/j.biocel.2016.07.010. Epub 2016 Jul 12. Int J Biochem Cell Biol. 2016. PMID: 27417235
Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive inherited metabolic disease of leucine catabolism with a highly variable phenotype. Apart from extensive mutation analyses of the MCCC1 and MCCC2 genes encoding 3-methylcrotonyl-CoA …
Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive inherited metabolic disease of leucine ca …
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 …
PAEDIATRIC CASE OF 3-METHYLCROTONYLGLYCINURIA WITH ENCEPHALOPATHY: A CASE REPORT FROM PAKISTAN.
Gova MA, Noor N, Nawaz H, Molani RA. Gova MA, et al. J Ayub Med Coll Abbottabad. 2024 Jan-Mar;36(1):216-219. doi: 10.55519/JAMC-01-12130. J Ayub Med Coll Abbottabad. 2024. PMID: 39585289 Free article.
3-Methylcrotonylglycinuria is a common inborn error of metabolism (IEM) resulting from the deficiency of 3-Methylcrotonyl-CoA carboxylase (3-MCC) and its prevalence ranges from 1:2400 to 1:6800. ...
3-Methylcrotonylglycinuria is a common inborn error of metabolism (IEM) resulting from the deficiency of 3-Methylcrotonyl-CoA …
Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.
Forsyth R, Vockley CW, Edick MJ, Cameron CA, Hiner SJ, Berry SA, Vockley J, Arnold GL; Inborn Errors of Metabolism Collaborative. Forsyth R, et al. Mol Genet Metab. 2016 May;118(1):15-20. doi: 10.1016/j.ymgme.2016.02.002. Epub 2016 Feb 15. Mol Genet Metab. 2016. PMID: 27033733 Free PMC article.
As yet, no predictive markers are known that can identify children at risk for biochemical or developmental abnormalities. METHOD: All available 3-MCC cases diagnosed by newborn screening in the Inborn Errors of Metabolism Information System (IBEM-IS) were reviewed …
As yet, no predictive markers are known that can identify children at risk for biochemical or developmental abnormalities. METHOD: All avail …
Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles".
Minkler PE, Stoll MS, Ingalls ST, Kerner J, Hoppel CL. Minkler PE, et al. Mol Genet Metab. 2015 Dec;116(4):231-41. doi: 10.1016/j.ymgme.2015.10.002. Epub 2015 Oct 8. Mol Genet Metab. 2015. PMID: 26458767 Free PMC article.
In this report, we present results from the application of our validated UHPLC-MS/MS second-tier method for the quantification of total carnitine, free carnitine, butyrobetaine, and acylcarnitines to patient samples with known diagnoses: malonic acidemia, short-chain acyl-CoA deh …
In this report, we present results from the application of our validated UHPLC-MS/MS second-tier method for the quantification of total carn …
29 results