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

J M Stoler; M A Sabry; C Hanley; C L Hoppel; V E Shih

doi:10.1023/b:boli.0000042979.42120.55

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

J Inherit Metab Dis. 2004;27(5):679-84. doi: 10.1023/b:boli.0000042979.42120.55.

Authors

J M Stoler¹, M A Sabry, C Hanley, C L Hoppel, V E Shih

Affiliation

¹ Genetics and Teratology Unit, Massachusetts General Hospital, 55 Fruit Street Warren 801, Boston MA 02114, USA. jstoler@partners.org

PMID: 15669684
DOI: 10.1023/b:boli.0000042979.42120.55

Abstract

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 5(1/2) 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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Carnitine O-Palmitoyltransferase / deficiency*
Carnitine O-Palmitoyltransferase / genetics*
DNA / metabolism
DNA, Complementary / metabolism
Diet*
Exons
Fibroblasts / metabolism
Homozygote
Humans
Lipid Metabolism, Inborn Errors / therapy*
Liver / enzymology*
Lymphocytes / metabolism
Male
Mutation*
RNA / metabolism
RNA, Messenger / metabolism
Reverse Transcriptase Polymerase Chain Reaction
Starch / therapeutic use*
Temperature

Substances

DNA, Complementary
RNA, Messenger
RNA
Starch
DNA
Carnitine O-Palmitoyltransferase