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| Disease found: | Adenylosuccinate Lyase Deficiency |
| Current as of: | October 8, 2024 |
| Disease Overview: | An inherited metabolic disorder. [more info] |
| Signs and Symptoms: | Three recognized categories: fatal neonatal form, ASLD-I, ASLD-II [more info] |
| Diagnosis: | Based on elevated levels of two compounds in body fluids such as plasma, urine and cerebrospinal fluid. [more info] |
| Treatment: | Currently available to control seizures. [more info] |
| Clinical Management: | Currently available to control seizures. [more info] |
| Referral: | None currently available. [more info]. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None currently available. [more info] |