RECURRENT METABOLIC DECOMPENSATION IN PROFOUND CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY

被引：19

作者：

ELPELEG, ON

JOSEPH, A

BRANSKI, D

CHRISTENSEN, E

HOLME, E

DEMAUGRE, F

SAUDUBRAY, JM

GUTMAN, A

机构：

[1] SHAARE ZEDEK MED CTR, DEPT PEDIAT, NEUROPEDIAT UNIT, IL-91000 JERUSALEM, ISRAEL

[2] HADASSAH MED CTR, DEPT CLIN BIOCHEM, JERUSALEM, ISRAEL

[3] RIGSHOSP, DEPT CLIN GENET, DK-2100 COPENHAGEN, DENMARK

[4] SAHLGRENS UNIV HOSP, DEPT CLIN CHEM, S-41345 GOTHENBURG, SWEDEN

[5] FAC MED NECKER ENFANTS MALAD, BIOCHIM LAB, PARIS, FRANCE

[6] HOP ENFANTS MALAD, GENET MED LAB, PARIS, FRANCE

来源：

JOURNAL OF PEDIATRICS | 1993年 / 122卷 / 06期

关键词：

D O I：

10.1016/S0022-3476(09)90019-1

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 3-year-old boy had recurrent episodes of lethargy, encephalopathy, and hepatomegaly accompanied by hypoglycemia, elevated liver aminotransferase and creatine kinase values, and nonketotic dicarboxylic aciduria; the serum carnitine level was moderately reduced. Carnitine palmitoyltransferase II activity was decreased in lymphocytes and fibroblasts. Therapy with L-carnitine and a diet low in long-chain triglycerides did not prevent recurrent episodes.

引用

页码：917 / 919

页数：3

共 10 条

[1] INFANTILE FORM OF CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY WITH HEPATOMUSCULAR SYMPTOMS AND SUDDEN-DEATH - PHYSIOPATHOLOGICAL APPROACH TO CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCIES [J].