EXCRETION OF 2-METHYL-3-OXOVALERIC ACID IN PROPIONIC ACIDEMIA

被引：31

作者：

LEHNERT, W ^{[1
]}

SCHUCHMANN, L ^{[1
]}

URBANEK, R ^{[1
]}

NIEDERHOFF, H ^{[1
]}

BOHM, N ^{[1
]}

机构：

[1] UNIV FREIBURG,INST PATHOL,D-7800 FREIBURG,FED REP GER

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1978年 / 128卷 / 03期

关键词：

2-Methyl-3-oxovaleric acid; Inherited disorders of the metabolism of organic acids; Liver histology in propionic acidemia; Organic acidemias; Organic acidurias; Propionic acidemia;

D O I：

10.1007/BF00444305

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A new case of propionic acidemia is presented, paying special attention to the early symptoms of this disease, such as increased drowsiness, muscular hypotonia, poor feeding, hypothermia, metabolic acidosis, ketonuria and vomiting. Investigation by gas chromatography (GC) and gas chromatography-mass spectrometry (GC-MS) revealed the excretion of fairly high amounts of 2-methyl-3-oxovaleric acid, a condensation product of two molecules of propionyl-CoA, as well as the known pathological metabolites such as propionic, 3-hydroxypropionic and methylcitric acids. Among the post mortem findings the histological studies of the liver were the most remarkable. © 1978 Springer-Verlag.

引用

页码：197 / 205

页数：9

共 16 条

[11]

LEHNERT W, 1975, KINDERARZT, V6, P1221

[12] IDIOPATHIC HYPERGLYCINEMIA - ISOLATION AND IDENTIFICATION OF 3 PREVIOUSLY UNDESCRIBED URINARY KETONES [J].