Uziel G, Cornelio F, Gellera C, Perego C, Rimoldi M, DiDonato S
Ital J Neurol Sci. 1986 Feb;7(1):107-12. doi: 10.1007/BF02230427.
Two adult non-identical twins with autosomal recessive olivopontocerebellar degeneration (OPCA) had markedly deficient adenylate deaminase in skeletal muscle homogenates. Ischemic exercise failed to increase the blood ammonia, while lactate increased normally. Glutamate dehydrogenase and NADP-dependent malic enzyme activities in muscle mitochondria of both patients were normal. The significance of adenylate deaminase deficiency in these twins with OPCA is discussed.
两名患有常染色体隐性遗传性橄榄体脑桥小脑萎缩（OPCA）的成年异卵双胞胎，其骨骼肌匀浆中的腺苷酸脱氨酶明显缺乏。缺血运动未能使血氨升高，而乳酸正常升高。两名患者肌肉线粒体中的谷氨酸脱氢酶和NADP依赖性苹果酸酶活性均正常。本文讨论了腺苷酸脱氨酶缺乏在这些OPCA双胞胎中的意义。
