Acetyl CoA acetyltransferase 2 deficiency

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Disease overview

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.

Common symptoms

Mental retardationreduced muscle toneglobal developmental delayjerky involuntary movements affecting especially the shouldershipsand face

WHEN TO SUSPECT

  • Recommendation 1

    Genetic testing

HOW TO TEST

  • Recommendation 1

    Genetic testing

TREATMENT

  • Recommendation 1

    Supportive Therapy Only

PRIMARY CARE

  • Recommendation 1

    Specialist referral and dietary restrictions

FURTHER SUPPORT

  • Recommendation 1

    Endocrinogy. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

Sources

No data available

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