DEFICIENCY OF THE ALPHA-SUBUNIT AND BETA-SUBUNITS OF PYRUVATE-DEHYDROGENASE IN A PATIENT WITH LACTIC-ACIDOSIS AND UNEXPECTED SUDDEN-DEATH

被引：33

作者：

SPERL, W ^{[1
]}

RUITENBEEK, W ^{[1
]}

KERKHOF, CMC ^{[1
]}

SENGERS, RCA ^{[1
]}

TRIJBELS, JMF ^{[1
]}

GUGGENBICHLER, JP ^{[1
]}

JANSSEN, AJM ^{[1
]}

BAKKEREN, JAJM ^{[1
]}

机构：

[1] UNIV INNSBRUCK,CHILDRENS HOSP,A-6020 INNSBRUCK,AUSTRIA

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1990年 / 149卷 / 07期

关键词：

Lactic acidosis; Mitochondrial myopathy; Pyruvate dehydrogenase; Subunits; Sudden death;

D O I：

10.1007/BF01959401

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

An infant with moderate muscular hypotonia and congenital lactic acidosis died suddenly at the age of 3 months. Autopsy revealed no abnormalities responsible for this unexpected death. Measurement of mitochondrial enzymes involved in energy production indicated a severely decreased total pyruvate dehydrogenase complex (PDHC) activity in muscle tissue (0.23 nmoles · min-1 · mg protein-1, control range 2.8-8.7) and moderately decreased PDHC activity in fibroblasts (0.27 nmoles · min-1 · mg protein-1, control range 0.37-2.32). The activity of the first component E1 (pyruvate dehydrogenase) in muscle tissue was 10 times lower than that of controls (0.008 nmoles · min-1 · mg protein-1, control range 0.10-0.25). The activities of dihydrolipoyl dehydrogenase (E3) and various other mitochondrial enzymes were normal. Immunochemical analysis in skeletal muscle tissue and fibroblasts demonstrated a decrease in the amount of the α and β subunits of E1. The features of this patient are compared with those of other patients reported in the literature with immunochemically confirmed combined E1 α and β deficiency. © 1990 Springer-Verlag.

引用

页码：487 / 492

页数：6

共 34 条

[1] FATAL LACTIC-ACIDOSIS DUE TO DEFICIENCY OF E1 COMPONENT OF THE PYRUVATE-DEHYDROGENASE COMPLEX [J].