Original paper
A case of atypical systemic primary carnitine deficiency in Saudi Arabia
Abstract
Systemic primary carnitine deficiency (SPCD) is an autosomal recessive inborn error of fatty acid metabolism caused by a defect in the transporter responsible for moving carnitine across plasma membrane. The clinical features of SPCD vary widely based on the age of onset and organs involved. During infancy, patients might show episodes of hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia. Skeletal myopathy,...
Paper Details
Title
A case of atypical systemic primary carnitine deficiency in Saudi Arabia
Published Date
Jun 27, 2018
Journal
Volume
10
Issue
2
Pages
7705 - 7705
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Notes
History