Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family

Malonic aciduria is an extremely rare inborn error of metabolism due to malonyl-CoA decarboxylase deficiency. This enzyme is encoded by the MLYCD (Malonyl-CoA Decarboxylase) gene, and the disease has an autosomal recessive inheritance. Malonic aciduria is characterized by systemic clinical involveme...

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Detalles Bibliográficos
Autores principales: Snanoudj, Sarah, Torre, Stéphanie, Sudrié-Arnaud, Bénédicte, Abily-Donval, Lenaig, Goldenberg, Alice, Salomons, Gajja S., Marret, Stéphane, Bekri, Soumeya, Tebani, Abdellah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8658006/
https://www.ncbi.nlm.nih.gov/pubmed/34884438
http://dx.doi.org/10.3390/ijms222312633

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8658006/
https://www.ncbi.nlm.nih.gov/pubmed/34884438
http://dx.doi.org/10.3390/ijms222312633

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