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    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?

    Acetyl CoA Acetyltransferase 2 Deficiency Artlcles

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