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Article

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

Journal of inherited metabolic disease - 1 Jan 2004

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

Abstract excerpt

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...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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