3-Methylcrotonyl-Coa Carboxylase 1 Deficiency (MCC1D)

3-Methylcrotonyl-Coa Carboxylase 1 Deficiency, also known as 3-methylcrotonyl coa carboxylase 1 deficiency, is related to 3-methylcrotonyl-coa carboxylase deficiency and 3-methylcrotonyl-coa carboxylase 2 deficiency, and has symptoms including lethargy, seizures and vomiting. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency is MCCC1 (Methylcrotonyl-CoA Carboxylase Subunit 1), and among its related pathways/superpathways are Amino acid metabolism and rRNA processing in the mitochondrion. Related phenotypes are global developmental delay and 3-hydroxyisovaleric aciduria