Primary care
Recommendation 1
Specialist referral and dietary restrictions
Acetyl CoA acetyltransferase 2 deficiency
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
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
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Supportive Therapy Only
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
Clinical Trials
Sources
No data available
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