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Page 1
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 …
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 …
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 …
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 …
[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. Although the precise relationship between th …
Because mice with generalized biogenesis defects seldom reach adulthood, conditional knockout models were generated to study the consequence …
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
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. ...Moreover, investigation by Restriction Fragment Length Polymorphism (RFLP) analysis of several families with diagnosed MCAD …
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common defect in mitochondrial beta-oxidation …
Policy issues related to expanded newborn screening: a review of three genetic/metabolic disorders.
Bishop Hubbard H. Bishop Hubbard H. Policy Polit Nurs Pract. 2007 Aug;8(3):201-9. doi: 10.1177/1527154407303498. Policy Polit Nurs Pract. 2007. PMID: 18178927 Review.
In 2005, a federal advisory committee recommended that the number of disorders in state newborn screening programs be expanded from 9 to 29. In view of this recommendation, state leaders will need to make cogent decisions regarding the expanse of their state newborn screen …
In 2005, a federal advisory committee recommended that the number of disorders in state newborn screening programs be expanded from 9
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