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Carnitine Uptake Defect: Frameshift Mutations in the Human Plasmalemmal Carnitine Transporter Gene

✍ Scribed by Anne-Marie Lamhonwah; Ingrid Tein


Book ID
115582974
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
298 KB
Volume
252
Category
Article
ISSN
0006-291X

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Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. This disease can present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal or cardiac myopathy. Mutations abol