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Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency

✍ Scribed by Stephen D Cederbaum; Samantha Koo-McCoy; Ingrid Tein; Betty Y.L Hsu; Arupa Ganguly; Eric Vilain; Katrina Dipple; Ljerka Cvitanovic-Sojat; Charles Stanley


Book ID
117735445
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
113 KB
Volume
77
Category
Article
ISSN
1096-7192

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Primary systemic carnitine deficiency (SCD) is an autosomal recessive disorder of fatty acid oxidation caused by defective cellular carnitine transport. The disease is characterized by metabolic derangement simulating ReyeΒ΄s syndrome, hypoglcaemia, progressive cardiomyopathy and skeletal myopathy. R