3-methylcrotonyl-CoA carboxylase 2 deficiency

A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13.

Signs and symptoms

• Global developmental delay
• Decreased circulating carnitine concentration
• Lethargy
• Ketoacidosis
• Alopecia
• Organic aciduria
• Propionyl-CoA carboxylase deficiency
• Seborrheic dermatitis
• Hypotonia
• Generalized hypotonia