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Identification of two novel mutations inOCTN2from two Saudi patients with systemic carnitine deficiency

✍ Scribed by Z. Rahbeeni; F. M. Vaz; K. Al-Hussein; M. P. Bucknall; J. Ruiter; R. J. Wanders; M. S. Rashed


Book ID
110392979
Publisher
Springer
Year
2002
Tongue
English
Weight
142 KB
Volume
25
Category
Article
ISSN
0141-8955

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Two novel missense mutations of the OCTN
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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