2020/08/12 by Forny, Patrick, Grunewald, Stephanie
Biochemistry, Genetics and Molecular Biology · Medicine · #Folate and B Vitamins Research #Metabolism and Genetic Disorders #Mitochondrial Function and Pathology
paper · doi:10.34763/jmotherandchild.20202402si.2014.000003
openalex publication_date 2020/08/12 · openalex created_date 2021/02/15 · openalex updated_date 2026/07/01
Isolated methylmalonic acidurias represent a heterogeneous genetic group of inborn errors of propionate metabolism with the common biochemical hallmark of elevated methylmalonic acid present in tissues and body fluids. It was first described in the 1960s and over the years better understanding of the disease and its presentation, earlier diagnosis, and most importantly advances in treatment have resulted in extended survival of patients. With that an expanding spectrum of complications is emerging which requires attention and regular monitoring to facilitate early intervention and reduce disease burden.