Adenylosuccinate lyase (ADSL) deficiency is a rare inherited disorder of de novo purine synthesis with predominantly neurological manifestations.
This section provides information about ADSL deficiency for patients, families, clinicians and researchers, together with our databases of published patients and reported ADSL variants.
Patients & familiesInformation about ADSL deficiency, diagnosis, treatment and current research written for patients and families. |
ProfessionalsClinical, biochemical and molecular information on ADSL deficiency for clinicians, diagnostic laboratories and researchers. |
Patient databaseA curated overview of published patients with ADSL deficiency, including available clinical, biochemical and genetic information. |
Variant databaseAn overview of reported disease-associated variants in the ADSL gene. |