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
Europe PMC · fetched just now · sorted by publication date
-
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 10× open access unreviewed -
2
Hypertension and blood pressure profiles in patients with acute intermittent porphyria: a prospective case-control study.
Jaworski K, Wasilewski R, Windyga J, Kowalik I, Szwed H, Lipniacka A, Niedolistek M, Was J, Januszewicz A, Kr… · 2026-05-08
unreviewed -
3
Intravenous hemin for prevention of frequent attacks of acute hepatic porphyria - a double-blind placebo controlled pilot study.
Moghe A, Kormos-Hallberg C, Villasante-Tezanos A, Anderson KE. · 2026-09-24
unreviewed -
4
Single-center real-world experience with givosiran for management of acute intermittent porphyria.
Stauffer C, Fierro L, Evard R, Balwani M. · 2026-09-24
unreviewed -
5
Small Activating RNAs: A Curated Database and an Overview of Rational Design Principles.
Sušjan-Leite P, Pečan P, Godeša A, Caldana FR, Jerala R. · 2026-09-14
open access unreviewed -
6
Beyond Precision: A Multidimensional Framework for Selecting Genetic Medicine Platforms.
Wieland J, Jackson P, Penrod W, Nadauld S, Barrott J. · 2026-09-11
open access unreviewed -
7
Proceedings of the 33rd European Paediatric Rheumatology Congress.
· 2026-09-16
open access unreviewed -
8
Acute and chronic neurological manifestations of acute porphyria.
Pischik E. · 2026-09-14
unreviewed -
9
Adult Acute Flaccid Paralysis Associated With Food Consumption: A Tetrodotoxin Poisoning Case Report and Differential Diagnosis.
Wei YH, Wu YC, Ko CA, Yang CC, Mao YC, Ho CH. · 2026-09-01
unreviewed -
10
Acute intermittent porphyria presenting with rhabdomyolysis and polyneuropathy with severe quadriparesis and respiratory failure: A case report.
Bielen L, Vujaklija Brajković A, Zlopaša O, Šućur N, Lovrić M, Šitum A, Stein P. · 2026-09-09
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.