Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation

被引：13

作者：

Stoler, JM

Sabry, MA

Hanley, C

Hoppel, CL

Shih, VE

机构：

[1] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Pediat Serv,Genet & Teratol Unit, Boston, MA 02114 USA

[2] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Amino Acid Disorders Lab, Boston, MA 02114 USA

[3] Massachusetts Gen Hosp, Nutr & Food Serv, Boston, MA 02114 USA

[4] Rainbow Babies & Childrens Hosp, Dept Pediat, Ctr Inherited Disorders Energy Metab, Cleveland, OH 44106 USA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2004年 / 27卷 / 05期

关键词：

D O I：

10.1023/B:BOLI.0000042979.42120.55

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Individuals with carnitine palmitoyltransferase I (CPT-I) deficiency cannot metabolize long-chain fatty acids and can develop life-threatening hypoglycaemia. We present a boy with CPT-I deficiency maintained on a very low-fat diet with nighttime uncooked cornstarch feedings for 51/2 years with good success. He has had normal growth and no episodes of hypoglycaemia or adverse side-effects. We found that he was homozygous for a previously undescribed mutation, T314I, in the CPT1A protein.

引用

页码：679 / 684

页数：6

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