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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]

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