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
✦ LIBER ✦
Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype–phenotype correlation
✍ Scribed by AA Yamak; F Bitar; P Karam; G Nemer
- Book ID
- 118701147
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 213 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0009-9163
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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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