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Disease found: | ALAD Porphyria |
Current as of: | October 8, 2024 |
Disease Overview: | A genetic metabolic disease [more info] |
Signs and Symptoms: | Patients can be asymptomatic or have severe abdominal cramping or pain accompanied by vomiting and constipation; and peripheral neuropathy. [more info] |
Diagnosis: | Identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation and of specialized tests. [more info] |
Treatment: | Symptom specific. [more info] |
Clinical Management: | Symptom specific. [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: | ~ 13 trials [more info] |