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| Disease found: | Acetyl CoA acetyltransferase 2 deficiency |
| Current as of: | October 8, 2024 |
| 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. [more info] |
| Signs and Symptoms: | Mental retardation, reduced muscle tone, global developmental delay, jerky involuntary movements affecting especially the shoulders, hips, and face [more info] |
| Diagnosis: | Genetic testing [more info] |
| Treatment: | Supportive Therapy Only [more info] |
| Clinical Management: | Specialist referral and dietary restrictions [more info] |
| Referral: | Endocrinogy. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None are recruiting, but can sign up to be notified when one becomes available |