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
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Carnitine O-Palmitoyltransferase / deficiency*
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Carnitine O-Palmitoyltransferase / genetics*
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DNA / metabolism
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DNA, Complementary / metabolism
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Diet*
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Exons
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Fibroblasts / metabolism
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Homozygote
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Humans
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Lipid Metabolism, Inborn Errors / therapy*
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Liver / enzymology*
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Lymphocytes / metabolism
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Male
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Mutation*
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RNA / metabolism
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RNA, Messenger / metabolism
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Reverse Transcriptase Polymerase Chain Reaction
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Starch / therapeutic use*
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Temperature
Substances
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DNA, Complementary
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RNA, Messenger
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RNA
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Starch
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DNA
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Carnitine O-Palmitoyltransferase