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Genotype-Phenotype Correlation in Primary Carnitine Deficiency
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...
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| Huvudupphovsmän: | , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2011
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3240685/ https://ncbi.nlm.nih.gov/pubmed/21922592 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21607 |
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