The most common mutation in muscle carnitine palmitoyltransferase II (CPT II) deficiency is a missense mutation that replaces a leucine for a serine residue at amino acid position 113 of the CPT II protein (S113L). We performed molecular analysis in a group of 14 Spanish patients with CPT II deficie
Selective carnitine palmitoyltransferase deficiency in fibroblasts from a patient with muscle CPT deficiency
β Scribed by Dr. T. P. Pula; S. R. Max; H. R. Zielke; M. Chacon; P. Baab; M. Gumbinas; W. D. Reed
- Publisher
- John Wiley and Sons
- Year
- 1981
- Tongue
- English
- Weight
- 322 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0364-5134
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## Carnitine palmitoyltransferase II (CPT II) deficiency manifests as two different clinical phenotypes: a muscular form and a hepatic form. We have investigated three nonconsanguineous Japanese patients with CPT II deficiency. Molecular analysis revealed two missense mutations, a glutamate (174)to
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