Acetyl-coa acetyltransferase 2 deficiency

Synonyms

3

Overview

Acetyl-coa acetyltransferase 2 deficiency is a rare disorder where a genetic anomaly results in a deficiency of a particular enzyme (Acetyl-coa acetyltransferase 2) which is associated with mental retardation and reduced muscle tone. The enzyme is involved in lipid metabolism.

Symptoms

• Reduced muscle tone
• Severe mental retardation

Resources

NIH