Primary care
Recommendation 1
Currently available to control seizures.
Adenylosuccinate Lyase Deficiency
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
An inherited metabolic disorder.
Common symptoms
Three recognized categories: fatal neonatal formASLD-IASLD-II [ ]
When to suspect
Recommendation 1
Based on elevated levels of two compounds in body fluids such as plasma, urine and cerebrospinal fluid.
How to test
Recommendation 1
Based on elevated levels of two compounds in body fluids such as plasma, urine and cerebrospinal fluid.
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
Currently available to control seizures.
Further support
Recommendation 1
None currently available. . 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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