RECURRENT HYPOGLYCEMIA ASSOCIATED WITH GLUTARIC ACIDURIA TYPE-II IN AN ADULT
RECURRENT HYPOGLYCEMIA ASSOCIATED WITH GLUTARIC ACIDURIA TYPE-II IN AN ADULT
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DOI：
10.1056/nejm197912273012601
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发表时间：
1979-01-01
影响因子：
158.5
通讯作者：
TANAKA, K
中科院分区：
文献类型：
--
作者：
DUSHEIKO, G;KEW, MC;TANAKA, K
一名19岁女性反复发作低血糖，伴有血清游离脂肪酸浓度升高，无酮症、肝脏脂肪浸润、肝功能障碍和近端肌病，提示分析其尿液中的有机酸。她的尿液中发现戊二酸、乙基丙二酸、具有6-10个碳的二羧酸和异戊酰甘氨酸的含量持续大幅增加。培养的患者皮肤成纤维细胞氧化[1- 14 C]丁酸和[2- 14 C]赖氨酸的能力降低。这些尿液和体外结果表明，包括戊二酰、异戊酰和丁酰辅酶A酶在内的几种酰基辅酶A酶活性缺陷，从而确立了II型谷氨酸尿症的诊断。骨骼肌和肝脏中的肉毒碱浓度中度降低，但肉毒碱缺乏症被认为是继发性生化异常。虽然II型葡萄糖酸尿症以前仅见于新生儿，但在成人低血糖症的鉴别诊断中必须考虑到这种疾病。
Repeated episodes of hypoglycemia accompanied by elevated serum concentrations of free fatty acid without ketosis, fatty infiltration of the liver, hepatic dysfunction and proximal myopathy in a 19 yr old women, prompted analysis of her urine for organic acids. Greatly increased quantities of glutaric acid, ethylmalonic acid, dicarboxylic acids with 6-10 carbons and isovalerylglycine were consistently found in her urine. The ability of cultured skin fibroblasts from the patient to oxidize [1-14C]butyrate and [2-14C]lysine was reduced. These urinary and in vitro findings indicated defective activity of several acyl coenzyme A dehydrogenases, including glutaryl, isovaleryl and butyryl coenzyme A dehydrogenases, establishing a diagnosis of glutaric aciduria Type II. Carnitine concentrations in the skeletal muscle and liver were moderately reduced, but carnitine deficiency was considered a secondary biochemical abnormality. Although glutaric aciduria Type II has previously been described only in a neonate, the disease must be considered in the differential diagnosis of hypoglycemia in adults.