GLUTARIC ACIDURIA TYPE 2 - REPORT ON A PREVIOUSLY UNDESCRIBED METABOLIC DISORDER
GLUTARIC ACIDURIA TYPE 2 - REPORT ON A PREVIOUSLY UNDESCRIBED METABOLIC DISORDER
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DOI：
10.1016/0009-8981(76)90060-7
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发表时间：
1976-01-01
影响因子：
5
通讯作者：
WADMAN, SK
中科院分区：
文献类型：
--
作者：
PRZYREMBEL, H;WENDEL, U;WADMAN, SK
一份报告是迄今未描述的代谢紊乱，其特点是致命的新生儿酸中毒，低血糖症和强烈的“汗脚”气味的临床。生化特征是大量尿中谷氨酸和乳酸的排泄。异丁酸、异戊酸和α-甲基丁酸也大大增加，其次是己二酸、乙基丙二酸、α -羟基丁酸、正丁酸、β-羟基丁酸、癸二酸、辛二酸、丙酸、α-羟基异戊酸和己酸。血清谷氨酸水平高度升高。血清中乳酸、α -羟基丁酸、己二酸、辛二酸、对羟基苯乳酸、肉豆蔻酸、十六碳烯酸、棕榈酸、油酸和硬脂酸水平也异常。血浆赖氨酸和缬氨酸也升高。在完整的成纤维细胞中，14 C标记的谷氨酸和14 C标记的支链氨基酸、α-酮异戊酸和α-酮异己酸的降解减少，而β-葡糖酸的降解正常。这种缺陷暂时被认为局限于一系列酰基辅酶A化合物的代谢水平。建议将该患者的疾病命名为“II型”谷氨酸尿症。
A report is given on a hitherto undescribed metabolic disorder, characterized clinically by fatal neonatal acidosis, hypoglycemia and a strong ‘sweaty-feet’ odour. Biochemical features were a massive urinary excretion of glutaric and lactic acids. Isobutyric, isovaleric and α-methylbutyric acids were also greatly increased, followed by adipic, ethylmalonic, α -hydroxybutyric,n-butyric, β-hydroxybutyric, sebacic, suberic, propionic, α-hydroxyisovaleric and hexanoic acids. The serum level of glutaric acid was highly elevated. In the serum there were also abnormal levels of lactic, α -hydroxybutyric, adipic, suberic,p-hydroxyphenyllactic, myristic, hexadecenoic, palmitic, oleic and stearic acids. Plasma lysine and valine-were also elevated.Degradation of14C-labelled glutaric acid and14C-labelled branched-chain amino acids, α-ketoisovaleric and α-ketoisocaproic acids in intact fibroblasts was decreased, whereas that of pyruvic acid was normal.The defect was tentatively supposed to be localized at the level of the metabolism of a range of acyl-CoA compounds.The name glutaric aciduria ‘type II’ is proposed for the patient's disease.