ALAD Porphyria

Not Verified
This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes

Disease overview

A genetic metabolic disease

Common symptoms

Patients can be asymptomatic or have severe abdominal cramping or pain accompanied by vomiting and constipationand peripheral neuropathy. [ ]

WHEN TO SUSPECT

  • Recommendation 1

    Identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation and of specialized tests.

HOW TO TEST

  • Recommendation 1

    Identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation and of specialized tests.

TREATMENT

  • Recommendation 1

    Symptom specific.

PRIMARY CARE

  • Recommendation 1

    Symptom specific.

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

  • Recommendation 1

    ~ 13 trials

Sources

No data available

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