Research & Literature

Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.

Yasuda M, Erwin AL, Liu LU, et al.

Molecular medicine (Cambridge, Mass.) 2015; (21()):487-95 doi:10.2119/molmed.2015.00099.

Acute Porphyrias.

Besur S, Schmeltzer P, Bonkovsky HL

The Journal of emergency medicine 2015; (49(3)):305-12.

AAV-mediated liver-directed gene therapy for Acute Intermittent Porphyria: It is safe but is it effective?

Brunetti-Pierri N, Newsome PN

Journal of hepatology 2016; (65(4)):666-667 doi:10.1016/j.jhep.2016.07.006.

Acute Porphyria Presenting as Major Trauma: Case Report and Literature Review.

Norton J, Hymers C, Stein P, et al.

The Journal of emergency medicine 2016; (51(5)):e115-e122 doi:10.1016/j.jemermed.2016.06.058.

Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome and lateralized periodic discharges plus fast activity on EEG.

Silveira DC, Bashir M, Daniel J, et al.

Epilepsy & behavior case reports 2016; (6()):58-60 doi:10.1016/j.ebcr.2016.08.004.

Acute intermittent porphyria: a test of clinical acumen.

Dhital R, Basnet S, Poudel DR, Bhusal KR

Journal of community hospital internal medicine perspectives 2017; (7(2)):100-102 doi:10.1080/20009666.2017.1317535.

Acute intermittent porphyria after right hemi-colectomy.

Alshammary S, Dulaijan RA, Saleh K, et al.

International journal of surgery case reports 2017; (40()):116-119 doi:10.1016/j.ijscr.2017.09.018.

Effect of Menstrual Cycle on Acute Intermittent Porphyria.

Júnior VRS, Lemos VMV, Feitosa IML, et al.

Child neurology open 2017; (4()):2329048X17736170 doi:10.1177/2329048X17736170.

Diagnosis and Treatment of Acute Intermittent Porphyria.

Bai J, Wang ZH

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2017; (39(6)):836-840 doi:10.3881/j.issn.1000-503X.2017.06.017.

Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver.

Schmitt C, Lenglet H, Yu A, et al.

Journal of internal medicine 2018; (284(1)):78-91 doi:10.1111/joim.12750.

Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.

Chen B, Solis-Villa C, Erwin AL, et al.

Journal of inherited metabolic disease 2019; (42(1)):186-194 doi:10.1002/jimd.12040.

Acute Hepatic Porphyrias: Review and Recent Progress.

Wang B, Rudnick S, Cengia B, Bonkovsky HL

Hepatology communications 2019; (3(2)):193-206 doi:10.1002/hep4.1297.

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.

Barreda-Sánchez M, Buendía-Martínez J, Glover-López G, et al.

Orphanet journal of rare diseases 2019; (14(1)):59 doi:10.1186/s13023-019-1031-7.

Acute Intermittent Porphyria: Novel Etiologic and Pathogenic Therapies Based on RNA Transfer to the Liver.

Prieto J, Gonzalez-Aseguinolaza G

Hepatology (Baltimore, Md.) 2019; (70(3)):1061-1063 doi:10.1002/hep.30678.

Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.

Goncharova M, Pshenichnikova O, Luchinina Y, et al.

Clinical genetics 2019; (96(1)):91-97 doi:10.1111/cge.13558.

Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias.

Dixon N, Li T, Marion B, et al.

Molecular genetics and metabolism 2019; (128(3)):228-235 doi:10.1016/j.ymgme.2019.05.010.

Self-efficacy and self-management strategies in acute intermittent porphyria.

Hammersland MH, Aarsand AK, Sandberg S, Andersen J

BMC health services research 2019; (19(1)):444 doi:10.1186/s12913-019-4285-9.

Acute Intermittent Porphyria: Current Perspectives And Case Presentation.

Spiritos Z, Salvador S, Mosquera D, Wilder J

Therapeutics and clinical risk management 2019; (15()):1443-1451 doi:10.2147/TCRM.S180161.

Givosiran: First Approval.

Scott LJ

Drugs 2020; (80(3)):335-339 doi:10.1007/s40265-020-01269-0.

Protocol For Patients With Suspected Acute Porphyria.

Castelbón Fernández FJ, Solares Fernandez I, Arranz Canales E, et al.

Revista clinica espanola 2020; (220(9)):592-596 doi:10.1016/j.rce.2019.10.012.

Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.

Balwani M, Sardh E, Ventura P, et al.

The New England journal of medicine 2020; (382(24)):2289-2301 doi:10.1056/NEJMoa1913147.

Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.

Morán-Jiménez MJ, Borrero-Corte MJ, Jara-Rubio F, et al.

Genes 2020; (11(8)) doi:10.3390/genes11080924.

5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.

Lahiji AP, Anderson KE, Chan A, et al.

Molecular genetics and metabolism 2020; (131(4)):418-423 doi:10.1016/j.ymgme.2020.10.011.

Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report.

de Sousa Arantes Ferreira G, Claudio de Oliveira L, Roberto de Sousa Ulisses L, et al.

The American journal of case reports 2020; (21()):e927832 doi:10.12659/AJCR.927832.

Acute intermittent porphyria (AIP) in a patient with celiac disease.

Nunnemann S, Uibel C, Budig P, Mäurer M

Neurological research and practice 2020; (2()):2 doi:10.1186/s42466-020-0049-6.

Discovery of Porphyria in a Postoperative Surgical Patient.

Toteja N, Khera D, Panda S, et al.

Indian journal of pediatrics 2021; (88(4)):412 doi:10.1007/s12098-020-03631-2.

Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.

Bustad HJ, Kallio JP, Vorland M, et al.

International journal of molecular sciences 2021; (22(2)) doi:10.3390/ijms22020675.

Novel treatment options for acute hepatic porphyrias.

Wang B

Current opinion in gastroenterology 2021; (37(3)):194-199 doi:10.1097/MOG.0000000000000734.

Unexpected presentation of acute porphyria.

Kiew CK, Lam ASEL

BMJ case reports 2021; (14(6)) doi:10.1136/bcr-2021-241580.

Neurology of the acute hepatic porphyrias.

Oliveira Santos M, Leal Rato M

Journal of the neurological sciences 2021; (428()):117605 doi:10.1016/j.jns.2021.117605.

RNAi therapy with givosiran significantly reduces attack rates in acute intermittent porphyria.

Sardh E, Harper P

Journal of internal medicine 2022; (291(5)):593-610 doi:10.1111/joim.13443.

Cutting-Edge Therapies and Novel Strategies for Acute Intermittent Porphyria: Step-by-Step towards the Solution.

Longo M, Paolini E, Meroni M, Dongiovanni P

Biomedicines 2022; (10(3)) doi:10.3390/biomedicines10030648.

Givosiran for the treatment of acute hepatic porphyria.

Ricci A, Ventura P

Expert review of clinical pharmacology 2022; (15(4)):383-393 doi:10.1080/17512433.2022.2075848.

Risk of Hepatocellular Carcinoma in Patients with Porphyria: A Systematic Review.

Ramai D, Deliwala SS, Chandan S, et al.

Cancers 2022; (14(12)) doi:10.3390/cancers14122947.

Porphyria-induced Postpartum Reversible Posterior Encephalopathy Syndrome.

Sharma SR, Sharma N, Synmon B, Hynniewtaya Y

Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine 2022; (26(6)):728-730 doi:10.5005/jp-journals-10071-24253.

Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study.

Wang B, Ventura P, Takase KI, et al.

Orphanet journal of rare diseases 2022; (17(1)):327 doi:10.1186/s13023-022-02463-x.

Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.

Lefever S, Peersman N, Meersseman W, et al.

Journal of inherited metabolic disease 2022; (45(6)):1151-1162 doi:10.1002/jimd.12545.

Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals.

Lissing M, Vassiliou D, Floderus Y, et al.

Journal of inherited metabolic disease 2023; (46(2)):286-299 doi:10.1002/jimd.12583.

Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria.

Ma CD, Faust D, Bonkovsky HL

Molecular genetics and metabolism reports 2023; (34()):100946 doi:10.1016/j.ymgmr.2022.100946.

[Research Progress in Pathogenesis of Hypertension in Acute Intermittent Porphyria].

Li QY, Ren Y, Wang JH, Yang J

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2023; (45(1)):129-133 doi:10.3881/j.issn.1000-503X.14571.

Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran-An ongoing clinical conundrum.

Ma CD, Faust D, Bonkovsky HL

JIMD reports 2023; (64(2)):146-149 doi:10.1002/jmd2.12354.

Update on the Porphyrias.

Dickey AK, Leaf RK, Balwani M

Annual review of medicine 2024; (75()):321-335 doi:10.1146/annurev-med-042921-123602.

Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples.

Moghe A, Dickey A, Erwin A, et al.

Molecular genetics and metabolism 2023; (140(3)):107670 doi:10.1016/j.ymgme.2023.107670.

HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review.

Li S, Lei JJ, Dong BX, et al.

Medicine 2023; (102(39)):e35144 doi:10.1097/MD.0000000000035144.

Acute Intermittent Porphyria Labeled Initially As Guillain-Barre Syndrome: Challenging Diagnosis.

Alayafi HA, Aljumah TK, Alluhayyan OB, et al.

Cureus 2023; (15(11)):e48753 doi:10.7759/cureus.48753.

The diagnosis of acute intermittent porphyria combined with seizures: Case report.

Wang Z, Cheng L, Liang X, et al.

Medicine 2023; (102(50)):e36167 doi:10.1097/MD.0000000000036167.

Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient.

Wang X, Zhang H, Huang H, et al.

Frontiers in genetics 2023; (14()):1333111 doi:10.3389/fgene.2023.1333111.

A case report of acute intermittent porphyria leading to severe disability.

Lin J, Liu J, Wang A, Si Z

Frontiers in neurology 2023; (14()):1334743 doi:10.3389/fneur.2023.1334743.

Liver transplantation and primary liver cancer in porphyria.

Lissing M, Wang B, Wahlin S

Liver international : official journal of the International Association for the Study of the Liver 2025; (45(3)):e15894 doi:10.1111/liv.15894.

Causal effect of porphyria biomarkers on alcohol-related hepatocellular carcinoma through Mendelian Randomization.

Yang X, Wang S, Sun C, Xia Y

PloS one 2024; (19(3)):e0299536 doi:10.1371/journal.pone.0299536.

Xenobiotics Triggering Acute Intermittent Porphyria and Their Effect on Mouse Brain Respiratory Complexes.

Zuccoli JR, Martínez MDC, Vallecorsa P, Buzaleh AM

Journal of xenobiotics 2024; (14(1)):308-319 doi:10.3390/jox14010019.

Long-term complications in acute porphyria.

Pischik E, Lissing M, Pallet N, Kauppinen R

Liver international : official journal of the International Association for the Study of the Liver 2024; (44(9)):2197-2207 doi:10.1111/liv.15966.

Onset of Acute Intermittent Porphyria After Etonogestrel Implant Insertion: A Case Report.

Furcich J, Boucher AA, Grace J

Journal of pediatric hematology/oncology 2024; (46(6)):319-321 doi:10.1097/MPH.0000000000002920.

Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Reversible Cerebral Vasoconstriction Syndrome and Myocardial Ischemia: A Case Report and Review.

Zhang B, Bu C, Zhao Y, Xia Z

Psychology research and behavior management 2024; (17()):2987-2993 doi:10.2147/PRBM.S441424.

Acute intermittent porphyria: a disease with low penetrance and high heterogeneity.

Lei JJ, Li S, Dong BX, et al.

Frontiers in genetics 2024; (15()):1374965 doi:10.3389/fgene.2024.1374965.

Therapeutic approach to acute crises of hepatic porphyrias.

Garrido Montes M, Pertusa Mataix R, Garcia Morillo JS

Revista clinica espanola 2024; (224(10)):664-669 doi:10.1016/j.rceng.2024.09.004.

Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study.

Sardh E, Balwani M, Rees DC, et al.

Orphanet journal of rare diseases 2024; (19(1)):365 doi:10.1186/s13023-024-03284-w.

Hepatocellular Carcinoma in Acute Hepatic Porphyria: A Meta-Analysis of Observational Studies.

Singal AK, Reddy RK, Gudiwada MC, et al.

Digestive diseases and sciences 2024; (69(11)):4268-4274 doi:10.1007/s10620-024-08661-w.

German Real-World Experience of Patients with Diverse Features of Acute Intermittent Porphyria Treated with Givosiran.

Kubisch I, Wohmann N, Wissniowski TT, et al.

Journal of clinical medicine 2024; (13(22)) doi:10.3390/jcm13226779.

Givosiran: a targeted treatment for acute intermittent porphyria.

Dickey AK, Leaf RK

Hematology. American Society of Hematology. Education Program 2024; (2024(1)):426-433 doi:10.1182/hematology.2024000663.

An easily overlooked disease in the early stages: acute intermittent porphyria.

Wang J, Chen J, Xu K, et al.

BMC neurology 2025; (25(1)):61 doi:10.1186/s12883-025-04064-0.

A novel HMBS gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings.

Dong W, Zeng B, Wang X, et al.

Frontiers in genetics 2025; (16()):1551832 doi:10.3389/fgene.2025.1551832.

[Abdominal pain and severely impaired consciousness in a 19-year-old female patient].

Kozlov A, Mybes C, Falk N, et al.

Innere Medizin (Heidelberg, Germany) 2025; (66(11)):1203-1208 doi:10.1007/s00108-025-01939-9.

A Diagnostic Challenge in the Emergency Department: Acute Intermittent Porphyria Unmasked After Cabergoline Exposure.

Mina C, Ghanem H, Matar N

Cureus 2026; (18(5)):e108146 doi:10.7759/cureus.108146.

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, et al.

Clinical case reports 2026; (14(7)):e73012 doi:10.1002/ccr3.73012.