Tsuchiyama A, Oyanagi K, Hirano S, Tachi N, Sogawa H, Wagatsuma K, Nakao T, Tsugawa S, Kawamura Y
J Inherit Metab Dis. 1983;6(3):85-8. doi: 10.1007/BF01800730.
A severely mentally retarded infant with congenital lactic acidosis due to pyruvate carboxylase deficiency is reported. The patient suffered from vomiting and convulsions soon after birth and developed severe mental and motor retardation at 3 months of age. The persistent elevation of pyruvate and lactate in both blood and cerebrospinal fluid and hyperalanaemia suggested an impairment of pyruvate oxidation. The enzyme activities of pyruvate carboxylase in both liver tissues and cultured skin fibroblasts of the patient revealed values of about 5% of controls. However, pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase activities in liver tissues were within normal limits. The patient had no response to administration of large doses of thiamine, lipoic acid and biotin, clinically and biochemically. A prenatal diagnosis was performed in the second pregnancy and the pyruvate carboxylase activities of the cultured amniotic fluid cells obtained by amniocentesis were within normal limits.
报道了一名因丙酮酸羧化酶缺乏导致先天性乳酸酸中毒的重度智力发育迟缓婴儿。该患者出生后不久即出现呕吐和惊厥，3个月大时出现严重的智力和运动发育迟缓。血液和脑脊液中丙酮酸和乳酸持续升高以及高丙氨酸血症提示丙酮酸氧化受损。患者肝脏组织和培养的皮肤成纤维细胞中丙酮酸羧化酶的酶活性显示约为对照组的5%。然而，肝脏组织中丙酮酸脱氢酶和α-酮戊二酸脱氢酶的活性在正常范围内。该患者在临床和生化方面对大剂量硫胺素、硫辛酸和生物素的给药无反应。在第二次怀孕时进行了产前诊断，通过羊膜穿刺术获得的培养羊水细胞的丙酮酸羧化酶活性在正常范围内。
