3-HYDROXYDICARBOXYLIC ACIDURIA - A FATTY-ACID OXIDATION DEFECT WITH SEVERE PROGNOSIS

被引:55
作者
HAGENFELDT, L
VONDOBELN, U
HOLME, E
ALM, J
BRANDBERG, G
ENOCKSSON, E
LINDEBERG, L
机构
[1] GOTHENBURG UNIV, DEPT CLIN CHEM, S-41124 GOTHENBURG, SWEDEN
[2] ST GORANS UNIV HOSP, DEPT PEDIAT, S-11281 STOCKHOLM, SWEDEN
[3] CTY HOSP OREBRO, DEPT PEDIAT, DANDERYD, SWEDEN
[4] CTY HOSP FALUN, DEPT PEDIAT, DANDERYD, SWEDEN
关键词
D O I
10.1016/S0022-3476(05)82826-4
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
We describe five patients with a suspected defect in the β-oxidation of fatty acids characterized by a massive excretion of 3-hydroxydicarboxylic acids in the urine and accumulation of 3-hydroxy fatty acids in serum during acute illness. Long-chain and medium-chain acyl-coenzyme A dehydrogenases in fibroblasts were normal in all patients. Four of them died of cardiomyopathy and liver insufficiency at 3 to 14 months of age. Two of the patients had elder siblings who had died unexpectedly in early infancy. These patients differ from previously described patients with β-oxidation defects. © 1990 The C.V. Mosby Company.
引用
收藏
页码:387 / 392
页数:6
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