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HMBS AD unreviewed

Acute intermittent porphyria

Heme synthesis Porphobilinogen deaminase (HMBS)

Enzyme or protein defect

Porphobilinogen deaminase (HMBS)

Accumulates or becomes deficient

ALA, porphobilinogen

Key features

Abdominal pain, neuropathy, psychiatric signs, port-wine urine; NO photosensitivity; triggered by CYP inducers, fasting, alcohol

Management

IV haem, glucose loading, avoid triggers, givosiran

Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.

Recent literature

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Europe PMC · fetched just now · sorted by publication date

  1. 1
    The ketogenic diet is not for everyone: contraindications, side effects, and drug interactions.

    Dyńka D, Rodzeń Ł, Rodzeń M, Łojko D, Karakuła-Juchnowicz H, Ede G, Grzywacz Ż, Antosik K, Sethi S, Unwin D. · 2026-01-04

    cited 4× open access unreviewed
  2. 2
    Limited benefit of liver transplantation in a boy with biallelic severe deficiency of hydroxymethylbilane synthase and review of prior reported cases.

    Araque M, Ma CD, Jordan A, Faust D, McGuire L, Bonkovsky HL. · 2026-06-27

    unreviewed
  3. 3
    Complementary and alternative medicines and cannabis use among individuals with acute intermittent porphyria.

    Tomasdottir A, Hedstrom K, Overbey JR, McDonough C, Balwani M, Naik H. · 2026-07-05

    unreviewed
  4. 4
    Treating a patient with ADP porphyria through suppression of both hepatic and erythroid ALA production.

    Veldhoen NC, Peltenburg NC, van Beers EJ, Friesema ECH, Langendonk JG. · 2026-07-13

    unreviewed
  5. 5
    Advanced Management of Acute Intermittent Porphyria: The Role of Givosiran Therapy in Improving Long-Term Outcomes-A Case Study.

    de Araújo Karpejany NRA, do Monte Neto JT, Pereira EM, Carvalho IAF, de Serpa Brandão RMS, da Silva AS, Dos S… · 2026-07-05

    unreviewed
  6. 6
    MRI Brain Imaging Patterns in Acute Intermittent Porphyria: A Retrospective Observational Study with Clinico-Radiological Correlation.

    Malik P, Mannam P, Sharma M, Pandey S, Ninan RS, Selvi BT, Sivadasan A, Mani S. · 2026-07-12

    unreviewed
  7. 7
    Tolerability of hormonal treatments in acute hepatic porphyria patients.

    Arandjelovic A, Ross C, Ross G. · 2026-07-11

    unreviewed
  8. 8
    Porphyria-Safe Emergency Management in COVID-Associated GBS-Like Neuropathy: Why Early Medication Review Should Accompany PBG/ALA Testing.

    Awan MA. · 2026-07-07

    unreviewed
  9. 9
    Understanding the Clinical Spectrum of the Cutaneous and Acute Hepatic Porphyrias.

    Vu TN, Talasila S, Jeha GM, Nadir U, Mohammad TF, Lim HW, Abraham I, Grove D, Tolkachjov SN. · 2026-05-29

    unreviewed
  10. 10
    Updates to gene-disease classifications and inheritance patterns for porphyrias.

    Reeves EB, Hankey W, Clair PS, Goldstein JL, Wilke MVMB, Feigenbaum A, Hung C, Spector E, Craigen WJ. · 2026-04-30

    unreviewed

External claims. These come from an index outside this database and are not checked against it. Treat them as leads.