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Familial carnitine transporter defect: A treatable cause of cardiomyopathy in children

โœ Scribed by Mary Ella M Pierpont; Galen N Breningstall; Charles A Stanley; Amarjit Singh

Book ID
117842088
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
453 KB
Volume
139
Category
Article
ISSN
1097-6744

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A defect in intracellular uptake of carnitine has been identified in patients with severe carnitine deficiency. To define the clinical manifestations of this disorder, the presenting features of 15 affected infants and children were examined. Progressive cardiomyopathy, with or without chronic muscl