3-Methylcrotonyl-Coa Carboxylase 2 Deficiency (MCC2D)

3-Methylcrotonyl-Coa Carboxylase 2 Deficiency, also known as 3-methylcrotonyl coa carboxylase 2 deficiency, is related to 3-methylcrotonyl-coa carboxylase 1 deficiency and amyotrophic lateral sclerosis type 5, and has symptoms including lethargy, seizures and vomiting. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency is MCCC2 (Methylcrotonyl-CoA Carboxylase Subunit 2), and among its related pathways/superpathways are Non-integrin membrane-ECM interactions and ECM proteoglycans. Affiliated tissues include skeletal muscle and breast, and related phenotypes are global developmental delay and hyperammonemia