Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome

Title

Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome

Creator

Chapoy PR; Angelini C; Brown WJ; Stiff JE; Shug AL; Cederbaum SD

Publisher

The New England Journal Of Medicine

Date

1980

Subject

Child; Humans; Male; Preschool; Q3 Literature Search; Diagnosis; Differential; Lipid Metabolism; Inborn Errors/diagnosis; Liver/metabolism; Carnitine/deficiency/metabolism/therapeutic use; Muscles/metabolism; Reye Syndrome/diagnosis

Description

A 3 1/2-year-old boy presented at three months of age with an acute episode of lethargy, somnolence, hypoglycemia, hepatomegaly, and cardiomegaly, which responded poorly to restoration of the blood sugar level to normal. The absence of ketonuria during subsequent episodes of severe hypoglycemia prompted a search for a defect in fatty acid oxidation. Plasma carnitine (2.0 to 5.0 mumol per liter), muscle carnitine (0.01 to 0.02 mumol per gram, wet weight) and liver carnitine (0.021 to 0.065 mumol per gram, wet weight) were all less than 5 per cent of the normal mean. During a 36-hour fast, ketones were barely detectable. Prolonged treatment with oral carnitine over a six-month period resulted in increased muscle strength, a dramatic reduction in cardiac size, relief of cardiomyopathy, partial repletion of carnitine levels in plasma and muscle, and complete repletion in the liver. Systemic carnitine deficiency is an easily treatable cause of recurrent Reye's-like syndrome. Its diagnosis requires measurement of carnitine levels.
1980

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

1389-1394

Issue

24

Volume

303

Citation

Chapoy PR; Angelini C; Brown WJ; Stiff JE; Shug AL; Cederbaum SD, “Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome,” Pediatric Palliative Care Library, accessed May 29, 2022, https://pedpalascnetlibrary.omeka.net/items/show/12508.

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