Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency
✍ Scribed by Rasmussen, Jan (author);Lund, Allan M. (author);Risom, Lotte (author);Wibrand, Flemming (author);Gislason, Hannes (author);Nielsen, Olav W. (author);Køber, Lars (author);Duno, Morten (author)
- Book ID
- 124120253
- Publisher
- Elsevier Inc.
- Year
- 2014
- Tongue
- English
- Weight
- 510 KB
- Volume
- 1
- Category
- Article
- ISSN
- 2214-4269
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📜 SIMILAR VOLUMES
Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. This disease can present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal or cardiac myopathy. Mutations abol
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