ALPHA-KETOGLUTARATE DEHYDROGENASE-DEFICIENCY PRESENTING AS CONGENITAL LACTIC-ACIDOSIS

被引：59

作者：

BONNEFONT, JP

CHRETIEN, D

RUSTIN, P

ROBINSON, B

VASSAULT, A

AUPETIT, J

CHARPENTIER, C

RABIER, D

SAUDUBRAY, JM

MUNNICH, A

机构：

[1] HOP NECKER ENFANTS MALAD, DEPT PEDIAT,INSERM,U12,UNITE RECH HANDICAPS GENET, 149 RUE SEVRES, F-75743 PARIS 15, FRANCE

[2] HOP NECKER ENFANTS MALAD, DEPT BIOCHIM, F-75743 PARIS 15, FRANCE

[3] HOSP SICK CHILDREN, DEPT BIOCHEM, TORONTO M5G 1X8, ONTARIO, CANADA

来源：

JOURNAL OF PEDIATRICS | 1992年 / 121卷 / 02期

关键词：

D O I：

10.1016/S0022-3476(05)81199-0

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report an inborn error of the tricarboxylic acid cycle, alpha-ketoglutarate dehydrogenase deficiency, in three siblings with hypotonia, metabolic acidosis, and hyperlactatemia immediately after birth. Neurologic deterioration resulted in death at about 30 months of age. We propose low molar ratios of ketone bodies in plasma of neonates with congenital lactic acidosis as an indication of dysfunction of the tricarboxylic acid cycle.

引用

页码：255 / 258

页数：4

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