Al-Hassnan ZN, Imtiaz F, Al-Amoudi M (2010) Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications. J Inherit Metab Dis. : 10.1007/s10545-010-9143-1Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia:incidence,genotype,and ...
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...
A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985A variant allele with haplotype analysis at the medium chain acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration Pediatr Res, 41 (1997)...
Minkler PE, Stoll MSK, Ingalls ST, Hoppel CL. Correcting false positive medium-chain acyl-CoA dehydrogenase deficiency results from newborn screening; synthesis, purification, and standardization of branched-chain C8 acylcarnitines for use in their selective and accurate absolute quantitation by UHPLC...
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 in length. An MCAD deficiency is an inborn error of metabolism in which fatty acid oxidation is impaired. It is an autosomal recessive dis...
3.3.1Acy-CoA dehydrogenases 3.3.1.1Rationale Presently, three members of the nine-member acyl-CoA dehydrogenase (ACAD) genetic superfamily have been clearly defined to play a significant chain-length-specific role in the complete oxidation of long-chain fatty acids within the mitochondrion...
Waber 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 acyl-CoA dehydrogenase (MCD) ...
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...
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]...
We have studied a 6 month old female who had two episodes of lethargy, hepatomegaly, metabolic acidosis, and hypoglycemia without ketosis. She had persistant hypocarnitinemia (avg free 3.6 μ M, ester. 4.7 μ M; nl free 48±8, ester. 6±3). Dicarboxylic