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Quoted phrase not found in phrase index: "Acyl-CoA dehydrogenase 9 deficiency"
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. This study aimed to evaluate the feasibility of incorporating second-tier genetic screening for MADD. ...Therefore, 18 patients were finally …
BACKGROUND: Newborn screening (NBS) for multiple acyl-CoA dehydrogenase deficiency (MADD) has poor sensitivity. …
Clinical, biochemical and genetic analysis of Chinese patients with isobutyryl-CoA dehydrogenase deficiency.
Lin Y, Peng W, Jiang M, Lin C, Lin W, Zheng Z, Li M, Fu Q. Lin Y, et al. Clin Chim Acta. 2018 Dec;487:133-138. doi: 10.1016/j.cca.2018.09.033. Epub 2018 Sep 22. Clin Chim Acta. 2018. PMID: 30253142
Isobutyryl-CoA dehydrogenase deficiency (IBDHD) is a rare autosomal recessive metabolic disorder related to valine catabolism and results from variants in ACAD8. ...Five previously unreported variants, c.235C > G, c.286G > A, c.444G > T c.1092 + 1G & …
Isobutyryl-CoA dehydrogenase deficiency (IBDHD) is a rare autosomal recessive metabolic disorder related to valine cata …
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Rücklová K, Hrubá E, Pavlíková M, Hanák P, Farolfi M, Chrastina P, Vlášková H, Kousal B, Smolka V, Foltenová H, Adam T, Friedecký D, Ješina P, Zeman J, Kožich V, Honzík T. Rücklová K, et al. Nutrients. 2021 Aug 24;13(9):2925. doi: 10.3390/nu13092925. Nutrients. 2021. PMID: 34578803 Free PMC article.
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD/MTPD) and medium chain acyl-CoA dehydrogenase deficiency (MCADD) were included in the expanded neonatal screening program (ENBS) in Czechia in 2009, allowing for the pre …
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD/MTPD) and medium chain acyl-CoA dehydrog …
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.
Van Hove JL, Zhang W, Kahler SG, Roe CR, Chen YT, Terada N, Chace DH, Iafolla AK, Ding JH, Millington DS. Van Hove JL, et al. Am J Hum Genet. 1993 May;52(5):958-66. Am J Hum Genet. 1993. PMID: 8488845 Free PMC article.
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is a disorder of fatty acid catabolism, with autosomal recessive inheritance. ...Acylcarnitines were also analyzed in 42 unaffected relatives of patients with MCAD deficiency and in other gro …
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is a disorder of fatty acid catabolism, with autosomal rec …
Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.
Eleftheriadou M, Medici-van den Herik E, Stuurman K, van Bever Y, Hellebrekers DMEI, van Slegtenhorst M, Ruijter G, Barakat TS. Eleftheriadou M, et al. Mol Genet Genomic Med. 2021 Feb;9(2):e1595. doi: 10.1002/mgg3.1595. Epub 2021 Jan 11. Mol Genet Genomic Med. 2021. PMID: 33432785 Free PMC article.
BACKGROUND: Isobutyryl-CoA dehydrogenase (IBD) is a mitochondrial enzyme catalysing the third step in the degradation of the essential branched-chain amino acid valine and is encoded by ACAD8. ACAD8 mutations lead to isobutyryl-CoA dehydrogenase def …
BACKGROUND: Isobutyryl-CoA dehydrogenase (IBD) is a mitochondrial enzyme catalysing the third step in the degradation of the e …
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 …
One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Li X, Ma R, Liu Y, Kang L, He R, Song J, Ren J, Li Y, Huang M, Men J, Yang Y. Li X, et al. Clin Chim Acta. 2020 Apr;503:218-222. doi: 10.1016/j.cca.2019.11.034. Epub 2019 Nov 30. Clin Chim Acta. 2020. PMID: 31794763
Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD deficiency), a rare autosomal recessive disorder, is characterized by hypoketotic hypoglycemia, cardiomyopathy, liver damage, and myopathy. ...The aim of this study was to determine the cl …
Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD deficiency), a rare autosomal recessive disorder …
High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhood.
van Maldegem BT, Kloosterman SF, Janssen WJ, Augustijn PB, van der Lee JH, Ijlst L, Waterham HR, Duran R, Wanders RJ, Wijburg FA. van Maldegem BT, et al. Neuropediatrics. 2011 Feb;42(1):13-7. doi: 10.1055/s-0031-1275342. Epub 2011 Apr 15. Neuropediatrics. 2011. PMID: 21500142
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of metabolism, most frequently associated with developmental delay and/or epilepsy. ...Overall, the 2 common ACADS variants and the rare c.1058C>T mutation …
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of metabolism, most …
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 …
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency.
Wilcken B, Hammond J, Silink M. Wilcken B, et al. Arch Dis Child. 1994 May;70(5):410-2. doi: 10.1136/adc.70.5.410. Arch Dis Child. 1994. PMID: 8017963 Free PMC article.
Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency presents with episodic fasting, hypoketotic hypoglycaemia, and coma. ...Two are lost to follow up. Our study of unselected patients with MCAD deficiency from a defined population shows not on …
Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency presents with episodic fasting, hypoketotic hypoglycaemia, …
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