Abstract
Summary: 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.
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Stoler, J.M., Sabry, M.A., Hanley, C. et al. Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation. J Inherit Metab Dis 27, 679–684 (2004). https://doi.org/10.1023/B:BOLI.0000042979.42120.55
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DOI: https://doi.org/10.1023/B:BOLI.0000042979.42120.55