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Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, Geraghty MT, Irwin JK, Mitchell JJ, Stockler S, Nicholls SG, Offringa M, Rahman A, Tessier LA, Butcher NJ, Iverson R, Lamoureux M, Clifford TJ, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Jain Ghai S, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Pediatrics. 2021 Aug;148(2):e2020037747. doi: 10.1542/peds.2020-037747. Epub 2021 Jul 15. Pediatrics. 2021. PMID: 34266901
BACKGROUND: Evidence to guide treatment of pediatric medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency and phenylketonuria (PKU) is fragmented because of large variability in outcome selection and measurement. ...Voting by 18 workshop participants …
BACKGROUND: Evidence to guide treatment of pediatric medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency and p …
Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency.
Andresen BS, Bross P, Jensen TG, Knudsen I, Winter V, Kølvraa S, Bolund L, Gregersen N. Andresen BS, et al. Scand J Clin Lab Invest Suppl. 1995;220:9-25. Scand J Clin Lab Invest Suppl. 1995. PMID: 7652482 Review.
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common defect in mitochondrial beta-oxidation in humans. ...We have so far identified the mutation in 33 of 45 non-G985 homozygous families with verified MCAD deficiency, thereby …
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common defect in mitochondrial beta-oxidation …
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.
Background Short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency is a rare inborn error of metabolism with uncertain clinical significance. ...Results Two siblings newly diagnosed with SBCAD deficiency are reported. Newborn screening al …
Background Short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency is a rare inborn error of metabolism w …
Medium chain acyl-coenzyme A dehydrogenase deficiency.
Bennett MJ, Hale DE. Bennett MJ, et al. N J Med. 1992 Sep;89(9):675-8. N J Med. 1992. PMID: 1436730 Review.
Medium chain acyl-coenzyme A dehydrogenase deficiency (MCADD) was the first metabolic disorder found to be associated with sudden infant death syndrome. ...
Medium chain acyl-coenzyme A dehydrogenase deficiency (MCADD) was the first metabolic disorder found to be associated w …
Structure and mechanism of action of the acyl-CoA dehydrogenases.
Thorpe C, Kim JJ. Thorpe C, et al. FASEB J. 1995 Jun;9(9):718-25. doi: 10.1096/fasebj.9.9.7601336. FASEB J. 1995. PMID: 7601336 Review.
Mitochondrial beta-oxidation involves a family of flavoproteins that introduce a C-C double bond into their fatty acyl-CoA substrates. Deficiencies of these acyl-CoA dehydrogenases lead to fatty acid oxidation disorders involving life-thr …
Mitochondrial beta-oxidation involves a family of flavoproteins that introduce a C-C double bond into their fatty acyl-CoA sub …
Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.
Maegawa GH, Poplawski NK, Andresen BS, Olpin SE, Nie G, Clarke JT, Teshima I. Maegawa GH, et al. Am J Med Genet A. 2008 Jun 15;146A(12):1581-6. doi: 10.1002/ajmg.a.32255. Am J Med Genet A. 2008. PMID: 18478588 Review.
Urine organic acid analysis revealed dicarboxylic aciduria, and plasma acylcarnitine analysis showed marked elevation of octanoyl (C8) and decanoyl (C10) carnitines with C8:C10 ratio of 9:1. These results were indicative of medium chain acyl-CoA dehydrogen …
Urine organic acid analysis revealed dicarboxylic aciduria, and plasma acylcarnitine analysis showed marked elevation of octanoyl (C8) and d …
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.
Ambrose A, Sheehan M, Bahl S, Athey T, Ghai-Jain S, Chan A, Mercimek-Andrews S. Ambrose A, et al. Orphanet J Rare Dis. 2022 Sep 15;17(1):360. doi: 10.1186/s13023-022-02512-5. Orphanet J Rare Dis. 2022. PMID: 36109795 Free PMC article. Review.
RESULTS: There were 38 patients including VLCAD (n = 5), LCHAD (n = 4), CACT (n = 3), MAD (n = 1), CPT-I (n = 13), CPT-II (n = 3) deficiencies and CTD (n = 9). Fourteen patients were diagnosed symptomatically (SymX), and 24 patients were diagnosed asymptomatically ( …
RESULTS: There were 38 patients including VLCAD (n = 5), LCHAD (n = 4), CACT (n = 3), MAD (n = 1), CPT-I (n = 13), CPT-II (n = 3) deficie …
[Very-long chain acyl-coA dehydrogenase deficiency: report of a Chinese pedigree and a literature review].
Cai S, Yang J, Wang S, Chen H, Zhao W, Zhou X, Zhang Y. Cai S, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Jan 10;41(1):59-66. doi: 10.3760/cma.j.cn511374-20230306-00111. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38171561 Review. Chinese.
OBJECTIVE: To explore the correlation between clinical classification and genotype and prognosis among Chinese children with Very-long chain acyl-CoA dehydrogenase deficiency (VLCADD). METHODS: A Chinese pedigree affected with VLCADD admitted at the Fi …
OBJECTIVE: To explore the correlation between clinical classification and genotype and prognosis among Chinese children with Very-long chain …
Mouse models for peroxisome biogenesis defects and beta-oxidation enzyme deficiencies.
Baes M, Van Veldhoven PP. Baes M, et al. Biochim Biophys Acta. 2012 Sep;1822(9):1489-500. doi: 10.1016/j.bbadis.2012.03.003. Epub 2012 Mar 14. Biochim Biophys Acta. 2012. PMID: 22446031 Free article. Review.
Because mice with generalized biogenesis defects seldom reach adulthood, conditional knockout models were generated to study the consequences of peroxisome deficiency in hepatocytes, different brain cell types and Sertoli cells. ...
Because mice with generalized biogenesis defects seldom reach adulthood, conditional knockout models were generated to study the consequence …
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
Lindner M, Hoffmann GF, Matern D. Lindner M, et al. J Inherit Metab Dis. 2010 Oct;33(5):521-6. doi: 10.1007/s10545-010-9076-8. Epub 2010 Apr 7. J Inherit Metab Dis. 2010. PMID: 20373143 Review.
Incidence calculations from reports from Australia, Germany, and the USA of a total of 5,256,999 newborns give a combined incidence of all FAOD of approximately 1:9,300. However, it appears to be much lower in Asians. Consequently, a significant prevalence and evidence for …
Incidence calculations from reports from Australia, Germany, and the USA of a total of 5,256,999 newborns give a combined incidence of all F …
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