Disease_Mapped_To_Gene
Cellosaurus Disease Terminology
MCCC1 Gene
MCCC2 Gene
Cellosaurus Terminology
NICHD Terminology
Amino Acid Metabolism Disorder
Methylcrotonyl-CoA Carboxylase Deficiency
3-MCC Deficiency
3-Methylcrotonyl-CoA Carboxylase Deficiency
An autosomal recessive inherited disorder caused by mutations in the MCCC1 or MCCC2 genes. It is characterized by a deficiency in an enzyme that is involved in the metabolism of proteins that contain leucine. Signs and symptoms range from mild to severe and include feeding difficulties, vomiting, diarrhea, developmental delays, lethargy, seizures and coma.
C3844623
C98674
Cellosaurus
Disease or Syndrome
Methylcrotonyl-CoA Carboxylase Deficiency
Methylcrotonyl-CoA Carboxylase Deficiency
NICHD
Neonatal Research Network Terminology