Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. This disease is caused by mutations in the novel organic cation transporter OCTN2 (SLC22A5 gene). The disease can present early in life with hypoketotic hypoglycemia or la
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Deficiency of the carnitine transporter (OCTN2) with partialN-acetylglutamate synthase (NAGS) deficiency
β Scribed by W.-L. Hwu; Y.-H. Chien; N. L. S. Tang; L.-K. Law; C.-Y. Lin; N.-C. Lee
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 217 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0141-8955
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