Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects. European Journal of Pediatric. 1992; (151): 154-159.Matsubara Y, Narisawa K, Tada K. Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects. Eur J Pediatr 1992;151:154-9....
中链酰基辅酶A 脱氢酶缺乏症(medium chain aryl-CoA dehydrogenase deficiency,MCAD,MIM 201450)是由于中链酰基辅酶A脱氢酶功能缺陷,中链脂肪酸β氧化受阻,导致能量生成减少和毒性代谢中间产物蓄积引起的疾病,属于常染色体隐性遗传代谢病。该病于1983年由Rhead等首次报道,1986年致病基因被成功定位和克隆。随着串联质谱技术...
这种情况在常染色体中遗传 中链酰基辅酶A脱氢酶缺乏症,通常称为MCAD缺乏症或MCADD,是一种脂肪酸氧化病,会损害身体将中链脂肪酸分解成乙酰辅酶A的能力。该疾病的特征是低血糖和猝死,没有及时干预,最常见的是禁食或呕吐。 在扩大新生儿筛查之前,MCADD是婴儿猝死的未被诊断的原因。在症状出现之前已经鉴定的个体具有良好...
ConclusionIn MCAD deficiency, as opposed to the usual rare autosomal recessive metabolic disease, a parent may also be an affected homozygote. MEDIUM-CHAIN acyl coenzyme A dehydrogenase (MCAD) (EC 1.3.99.3) catalyzes the β-oxidation of straight-chain acyl-coenzyme A esters from C4 to C12 units...
Medium-Chain Acyl-CoA Dehydrogenase Deficiency Confirmatory Testing Confirmatory testing involves urinary organic acid levels, repeating the acylcarnitine profile on plasma, MCAD enzyme activity levels, and genotype analysis via chromosomal testing.
Vol. 1 No. 7 Medium chain acyl-CoA dehydrogenase deficiency: Human genome epidemiology review Sophia S. Wang, phDis2,P a u l M.Fernhofi MD', W. H a r r y Hannon, P~D*a, n d Muin J. Khoury, MD, phLI2 Medium chain acyl-CoA dehydrogenase (MCAD) is a tetrameric flavoprotein ...
F FrrmanS oodmanPediatric ResearchWaber L, Francomono C, Bmsilow S, Valle D, Fresman F, Goodman S 1984 Medium chain acyl-coA dehydrogenase (MCD) deficiency. Pediatr Res 18:302AWabner, L., Francomano, C., Brusilow, S., Valle, D., Frerman, F. and Goodman, S. Medium-chain...
Treem, W.R.; Stanley, C.A.; Goodman, S.I. Medium-chain acyl-CoA dehydrogenase deficiency: Metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation. J. Inherit. Metab. Dis. 1989, 12, 112-119. [CrossRef] [PubMed]...
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is a disorder of fatty acid catabolism, with autosomal recessive inheritance. The disease is characterized by episodic illness associated with potentially fatal hypoglycemia and has a relatively high frequency. A rapid and reliable method for ...
Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening. Am J Med Genet A. 2012;158A:2100-5. [PubMed: 22848008]Anderson, S.; Botti, C.; Li, B.; Millonig, J.H.; Lyon, E.; Millson, A.; Karabin, S.S.; Brooks, S.S. Medium ...