ALAD Porphyria

Not yet reviewed

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.

ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.

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

Clinical Trials

Sources

No data available

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