Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review

RATIONALE: Carnitine-acylcarnitine translocate deficiency (CACTD) is a rare and life-threatening, autosomal recessive disorder of fatty acid β-oxidation characterized by hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy, liver dysfunction, and muscle weakness; culminating in early death. To d...

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Detalles Bibliográficos
Autores principales: Yan, Hui-ming, Hu, Hao, Ahmed, Aisha, Feng, Bing-bing, Liu, Jing, Jia, Zheng-jun, Wang, Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5690761/
https://www.ncbi.nlm.nih.gov/pubmed/29137068
http://dx.doi.org/10.1097/MD.0000000000008549

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5690761/
https://www.ncbi.nlm.nih.gov/pubmed/29137068
http://dx.doi.org/10.1097/MD.0000000000008549

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