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一株成纤维细胞培养物(GM6056)取自一例4个月女婴的皮肤活检组织。出生第一天就发生代谢性酸中毒,血液中乳酸浓度达160mg/dl,通过气-液相色谱分析,在血液及尿液中测定出有大量乳酸物、乙酰乙酸物和β-羟基丁酸。病孩摄入含有维生素B_1、B_6及生物素的低糖高脂肪高蛋白质的食物后病情仍未改善。通过对成纤维细胞中丙酮酸羧化酶活性的测定而诊断为丙酮酸羧化酶缺陷(见下表)。利用完整的成纤维细胞和不同的~(14)C
One fibroblast culture (GM6056) was taken from a 4-month-old baby’s skin biopsy tissue. Metabolic acidosis occurs on the first day of life with a lactate concentration of 160 mg / dL in blood. A large amount of lactate, acetoacetate and β-hydroxybutyrate were determined in blood and urine by gas-liquid chromatography . The sick child’s condition does not improve after ingesting low-sugar, high-fat, high-protein foods containing vitamin B_1, B_6 and biotin. Pyruvate carboxylase deficiency was diagnosed by assaying pyruvate carboxylase activity in fibroblasts (see table below). Utilize intact fibroblasts and different ~ (14) C