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Quoted phrase not found in phrase index: "Multiple acyl-CoA dehydrogenase deficiency, mild type"
Page 1
Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.
Lin Y, Zheng W, Chen Y, Huang C, Fu Q, Chen D, Peng W. Lin Y, et al. Clin Chim Acta. 2022 Dec 1;537:181-187. doi: 10.1016/j.cca.2022.10.024. Epub 2022 Nov 5. Clin Chim Acta. 2022. PMID: 36334790
BACKGROUND: Newborn screening (NBS) for multiple acyl-CoA dehydrogenase deficiency (MADD) has poor sensitivity. ...The most common ETFDH variant being c.250G > A with an allelic frequency of 47.22 %, followed by c.524G > A (13.89 %) and c. …
BACKGROUND: Newborn screening (NBS) for multiple acyl-CoA dehydrogenase deficiency (MADD) has poor sensit …
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
Henriques BJ, Lucas TG, Martins E, Gaspar A, Bandeira A, Nogueira C, Brandão O, Rocha H, Vilarinho L, Gomes CM. Henriques BJ, et al. Curr Mol Med. 2019;19(7):487-493. doi: 10.2174/1566524019666190507114748. Curr Mol Med. 2019. PMID: 31418342
BACKGROUND: Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) is a congenital rare metabolic disease with broad clinical phenotypes and variable evolution. ...However, when any of these mutations are in heterozygosity with the known ETF:QO-p.Pro …
BACKGROUND: Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) is a congenital rare metabolic disease with …
Review: Metabolic cardiomyopathy and conduction system defects in children.
Gilbert-Barness E. Gilbert-Barness E. Ann Clin Lab Sci. 2004 Winter;34(1):15-34. Ann Clin Lab Sci. 2004. PMID: 15038665 Review.
Disorders of lipid metabolism include systemic carnitine deficiency and abnormalities of carnitine palmitoyltransferase (CPT), long-chain acyl-CoA dehydrogenase, and multiple acyl-CoA dehydrogenase. ...Primary hypertrophic c …
Disorders of lipid metabolism include systemic carnitine deficiency and abnormalities of carnitine palmitoyltransferase (CPT), long-c …
Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.
Ali A, Dhahouri NA, Almesmari FSA, Fathalla WM, Jasmi FA. Ali A, et al. Genes (Basel). 2021 May 8;12(5):703. doi: 10.3390/genes12050703. Genes (Basel). 2021. PMID: 34066864 Free PMC article.
Glutaric aciduria type II (GA-II) is a rare autosomal recessive disease caused by defects in electron transfer flavoprotein (ETF), ultimately causing insufficiencies in multiple acyl-CoA dehydrogenase (MAD). 3-phosphoglycerate dehydrogenase (3-P …
Glutaric aciduria type II (GA-II) is a rare autosomal recessive disease caused by defects in electron transfer flavoprotein (ETF), ultimatel …
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
Yamada K, Ito M, Kobayashi H, Hasegawa Y, Fukuda S, Yamaguchi S, Taketani T. Yamada K, et al. Brain Dev. 2019 Aug;41(7):638-642. doi: 10.1016/j.braindev.2019.04.002. Epub 2019 Apr 11. Brain Dev. 2019. PMID: 30982706
Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric acidemia type II, is classically caused by a congenital defect in electron transfer flavoprotein (ETF) or ETF dehydrogenase (ETFDH). ...At 2 years and 5 months of a …
Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric acidemia type II, is classicall …
Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.
Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM. Wolfe LA, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3(0 3):S481-7. doi: 10.1007/s10545-010-9246-8. Epub 2010 Nov 19. J Inherit Metab Dis. 2010. PMID: 21088898 Free PMC article.
He did not experience metabolic crises between ages 4-12 years. He experienced recurrent vomiting, mild hyperammonemia, and generalized weakness associated with acute illnesses and growth spurts. At age 18 years, he developed exercise intolerance and proximal muscle weakne …
He did not experience metabolic crises between ages 4-12 years. He experienced recurrent vomiting, mild hyperammonemia, and generaliz …
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
Yotsumoto Y, Hasegawa Y, Fukuda S, Kobayashi H, Endo M, Fukao T, Yamaguchi S. Yotsumoto Y, et al. Mol Genet Metab. 2008 May;94(1):61-7. doi: 10.1016/j.ymgme.2008.01.002. Epub 2008 Mar 4. Mol Genet Metab. 2008. PMID: 18289905
Glutaric acidemia type 2 (GA2) is an autosomal recessive disorder resulting from a deficiency of electron transfer flavoprotein (ETF) or ETF dehydrogenase (ETFDH) that manifests from most severe neonatal to late-onset forms. ...Our results suggest that clinical and …
Glutaric acidemia type 2 (GA2) is an autosomal recessive disorder resulting from a deficiency of electron transfer flavoprotein (ETF) …
Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome.
Boneh A, Beauchamp M, Humphrey M, Watkins J, Peters H, Yaplito-Lee J. Boneh A, et al. Mol Genet Metab. 2008 Jul;94(3):287-91. doi: 10.1016/j.ymgme.2008.03.005. Epub 2008 Apr 14. Mol Genet Metab. 2008. PMID: 18411069
Another patient was diagnosed through cascade screening of children born before the implementation of the expanded newborn screening program. Patients were treated by mild protein restriction (2-2.5 g/kg/day) and carnitine supplementation when well, focussing on the aggres …
Another patient was diagnosed through cascade screening of children born before the implementation of the expanded newborn screening program …