3-methylcrotonyl-CoA carboxylase 1 deficiency

A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27.

Signs and symptoms

• Mild intellectual disability
• Decreased circulating carnitine concentration
• Profound intellectual disability
• Elevated circulating 3-hydroxyisovalerylcarnitine concentration
• Nystagmus
• Severe postnatal growth retardation
• Generalized dystonia
• Jaundice
• Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts
• Incoordination