Gibson K M, Sweetman L, Nyhan W L, Lenoir G, Divry P
Eur J Pediatr. 1984 Sep;142(4):257-9. doi: 10.1007/BF00540247.
Succinic semialdehyde dehydrogenase deficiency has been demonstrated in a fourth patient with 4-hydroxybutyric aciduria. Lysates of freshly isolated lymphocytes and cultured lymphoblasts of the patient had much lower than control activity in the conversion of U-14C-4-aminobutyric acid to 14C-succinic acid in an assay designed to estimate succinic semialdehyde dehydrogenase utilizing endogenous 4-aminobutyrate transaminase. Lymphocyte and lymphoblast lysates of the patient accumulated U-14C-succinic semialdehyde when incubated with U-14C-4-aminobutyric acid and NAD+ whereas none could be detected in controls. Assays using U-14C-succinic semialdehyde as substrate for succinic semialdehyde dehydrogenase in lysates of cultured lymphoblasts characterized the patient as having a severe deficiency of succinic semialdehyde dehydrogenase. The data indicate that defective activity of succinic semialdehyde dehydrogenase is responsible for 4-hydroxybutyric aciduria.
在第四例患有4-羟基丁酸尿症的患者中已证实存在琥珀酸半醛脱氢酶缺乏症。在一项旨在利用内源性4-氨基丁酸转氨酶估算琥珀酸半醛脱氢酶的试验中，患者新鲜分离的淋巴细胞和培养的淋巴母细胞裂解物在将U-14C-4-氨基丁酸转化为14C-琥珀酸的过程中，其活性远低于对照组。当与U-14C-4-氨基丁酸和NAD+一起孵育时，患者的淋巴细胞和淋巴母细胞裂解物积累了U-14C-琥珀酸半醛，而在对照组中未检测到。使用U-14C-琥珀酸半醛作为培养的淋巴母细胞裂解物中琥珀酸半醛脱氢酶的底物进行的试验表明，该患者存在严重的琥珀酸半醛脱氢酶缺乏症。数据表明，琥珀酸半醛脱氢酶活性缺陷是导致4-羟基丁酸尿症的原因。
