Methylmalonic Acidemia with Novel MUT Gene Mutations

A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and...

Descripción completa

Detalles Bibliográficos
Autores principales: Panigrahi, Inusha, Bhunwal, Savita, Varma, Harish, Singh, Simranjeet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5660767/
https://www.ncbi.nlm.nih.gov/pubmed/29158924
http://dx.doi.org/10.1155/2017/8984951

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5660767/
https://www.ncbi.nlm.nih.gov/pubmed/29158924
http://dx.doi.org/10.1155/2017/8984951

Ejemplares similares