congenital bile acid synthesis defect 6

A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14.

Signs and symptoms

• Elevated circulating aspartate aminotransferase concentration
• Delayed speech and language development
• Mild intellectual disability
• Dysmetria
• Gait ataxia
• Global developmental delay
• Slurred speech
• Steatorrhea
• Hypolipidemia
• Elevated circulating alanine aminotransferase concentration

Also known as: CBAS6