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Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy

✍ Scribed by M Kinali; S.E Olpin; P.T Clayton; P.E.F Daubeney; E Mercuri; A.Y Manzur; I Tein; J Leonard; F Muntoni


Book ID
113589987
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
176 KB
Volume
8
Category
Article
ISSN
1090-3798

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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