Acetyl CoA Acetyltransferase 2 Deficiency

What is Acetyl CoA Acetyltransferase 2 Deficiency?

Acetyl-Coa Acetyltransferase 2 Deficiency is a rare genetic disorder where an anomaly causes the enzyme, Acetyl-Coa Acetyltransferase 2, to reach extremely low levels. The enzyme is involved in lipid metabolism.

Onset of disease is between age 4 to 7 months.

What are the symptoms of Acetyl CoA Acetyltransferase 2 Deficiency?

Common symptoms of Acetyl CoA Acetyltransferase 2 Deficiency include the following:

• Mental retardation
• Reduced muscle tone
• Global developmental delay
• Jerky involuntary movements affecting especially the shoulders, hips, and face.

What causes Acetyl CoA Acetyltransferase 2 Deficiency?

Acetyl CoA Acetyltransferase 2 Deficiency is caused by a mutation in the ACAT2 gene. The product of this gene is an enzyme involved in lipid metabolism

How is Acetyl CoA Acetyltransferase 2 Deficiency diagnosed?

Genetic testing is used to diagnose Acetyl CoA Acetyltransferase 2 Deficiency.

What are the treatments for Acetyl CoA Acetyltransferase 2 Deficiency?

Individualized treatment to address the symptoms of the disorder.

Where can I find out more about Acetyl CoA Acetyltransferase 2 Deficiency?

• NIH
• Check Orphan
• Science Direct