Primary carnitine deficiency
β Scribed by Stanley, C.A.
- Book ID
- 123256575
- Publisher
- Elsevier Science
- Year
- 1989
- Tongue
- English
- Weight
- 154 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0753-3322
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π SIMILAR VOLUMES
## Communicated by Nancy Spinner Primary carnitine deficiency is a recessive disorder caused by heterogeneous mutations in the SLC22A5 gene encoding the OCTN2 carnitine transporter. Here we extend mutational analysis to eight new families with this disorder. To determine the mechanism by which miss
Primary carnitine deficiency is caused by defective OCTN2 carnitine transporters encoded by the SLC22A5 gene. Lack of carnitine impairs fatty acid oxidation resulting in hypoketotic hypoglycemia, hepatic encephalopathy, skeletal and cardiac myopathy. Recently, asymptomatic mothers with primary carni