【摘要】 有机酸血症是由于氨基酸、糖、脂类中间代谢过程中酶缺陷所致的1组遗传代谢病。患者血内贮积有机酸,并从尿液大量排出。本症国外已有大量报道,国内甚少,作者自1986年以来,见到2例甲基丙二酸尿症,2例枫糖尿症,1例尿黑酸尿症,作一综合报道。更多还原

【Abstract】 Two cases of methylmalonic acidurias (type mut), two cases of maple syrup urine disease (classic form) and one case of alkaptonuria were reported in this paper. All these cases were uncovered by gas chromatography. Two patients with methymalonic aciduria and one with maple syrup urine disease died in early infancy. Four cases’ family history were compatible with autosomal recessive inheritance. The pathogenesis, clinical features, diagnosis, inheritance, and prenatal diagnosis are briefly discussed.更多还原