Lehnert W, Scharf J, Wendel U
Eur J Pediatr. 1985 Mar;143(4):301-3. doi: 10.1007/BF00442306.
A girl suffering from marked muscular hypotonia, severe statomotor and mental retardation, bilateral optic atrophy with chorioretinal degeneration, convulsions and a moderate compensated metabolic acidosis is described. Screening for metabolic disorders revealed massive 3-methylglutaconic with 3-methylglutaric aciduria leading to the tentative diagnosis of 3-methylglutaconyl-CoA hydratase deficiency. Metabolite excretion was correlated with variation of leucine intake. 3-methyl-3-hydroxyglutaryl-CoA lyase activity in cultured fibroblasts was normal. The suspected metabolic defect was not demonstrable in cultured skin fibroblasts, however.
描述了一名患有明显肌肉张力减退、严重的共济运动和智力发育迟缓、伴有脉络膜视网膜变性的双侧视神经萎缩、惊厥以及中度代偿性代谢性酸中毒的女孩。对代谢紊乱进行筛查发现大量3-甲基戊烯二酸和3-甲基戊二酸尿症，从而初步诊断为3-甲基戊二酰辅酶A水合酶缺乏症。代谢物排泄与亮氨酸摄入量的变化相关。培养的成纤维细胞中3-甲基-3-羟基戊二酰辅酶A裂解酶活性正常。然而，在培养的皮肤成纤维细胞中未发现可疑的代谢缺陷。
