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Porphyrin metabolism disease

MedGen UID:
10865
•Concept ID:
C0032708
•
Disease or Syndrome
Synonyms: Disorder of porphyrin and heme metabolism; disorder of porphyrin and heme metabolism; Disorder of porphyrin metabolism; disorder of porphyrin metabolism; disorder of porphyrin-containing compound metabolic process; porphyrin metabolism disease; porphyrin-containing compound metabolic process disease
SNOMED CT: Disorder of porphyrin and heme metabolism (29094004); Disorder of porphyrin metabolism (29094004)
 
Monarch Initiative: MONDO:0037821

Definition

A disease that has its basis in the disruption of porphyrin-containing compound metabolic process. [from MONDO]

Professional guidelines

PubMed

AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Intractable Ocular Diseases and Treatment Progress.
Zhang X, Li S, Tang Y, Guo Y, Gao S
AAPS PharmSciTech 2020 Aug 14;21(6):236. doi: 10.1208/s12249-020-01774-1. PMID: 32803351
Recommendations to prevent and control iron deficiency in the United States. Centers for Disease Control and Prevention.
MMWR Recomm Rep 1998 Apr 3;47(RR-3):1-29. PMID: 9563847

Recent clinical studies

Etiology

Destabilization of Atherosclerotic Plaque by Bilirubin Deficiency.
Chen W, Tumanov S, Stanley CP, Kong SMY, Nadel J, Vigder N, Newington DL, Wang XS, Dunn LL, Stocker R
Circ Res 2023 Mar 31;132(7):812-827. Epub 2023 Mar 6 doi: 10.1161/CIRCRESAHA.122.322418. PMID: 36876485
AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Acute intermittent porphyria: A case report.
Bustos J, Vargas L, Quintero R
Biomedica 2020 Mar 1;40(1):14-19. doi: 10.7705/biomedica.4767. PMID: 32220159Free PMC Article
Heme biosynthesis and the porphyrias.
Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free PMC Article
Connecting genetic risk to disease end points through the human blood plasma proteome.
Suhre K, Arnold M, Bhagwat AM, Cotton RJ, Engelke R, Raffler J, Sarwath H, Thareja G, Wahl A, DeLisle RK, Gold L, Pezer M, Lauc G, El-Din Selim MA, Mook-Kanamori DO, Al-Dous EK, Mohamoud YA, Malek J, Strauch K, Grallert H, Peters A, Kastenmüller G, Gieger C, Graumann J
Nat Commun 2017 Feb 27;8:14357. doi: 10.1038/ncomms14357. PMID: 28240269Free PMC Article

Diagnosis

AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Acute intermittent porphyria: A case report.
Bustos J, Vargas L, Quintero R
Biomedica 2020 Mar 1;40(1):14-19. doi: 10.7705/biomedica.4767. PMID: 32220159Free PMC Article
Clinical Guide and Update on Porphyrias.
Stölzel U, Doss MO, Schuppan D
Gastroenterology 2019 Aug;157(2):365-381.e4. Epub 2019 May 11 doi: 10.1053/j.gastro.2019.04.050. PMID: 31085196
Connecting genetic risk to disease end points through the human blood plasma proteome.
Suhre K, Arnold M, Bhagwat AM, Cotton RJ, Engelke R, Raffler J, Sarwath H, Thareja G, Wahl A, DeLisle RK, Gold L, Pezer M, Lauc G, El-Din Selim MA, Mook-Kanamori DO, Al-Dous EK, Mohamoud YA, Malek J, Strauch K, Grallert H, Peters A, Kastenmüller G, Gieger C, Graumann J
Nat Commun 2017 Feb 27;8:14357. doi: 10.1038/ncomms14357. PMID: 28240269Free PMC Article
Porphyric neuropathy.
Lin CS, Park SB, Krishnan AV
Handb Clin Neurol 2013;115:613-27. doi: 10.1016/B978-0-444-52902-2.00036-9. PMID: 23931806

Therapy

AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Hippo pathway activation mediates chemotherapy-induced anti-cancer effect and cardiomyopathy through causing mitochondrial damage and dysfunction.
She G, Du JC, Wu W, Pu TT, Zhang Y, Bai RY, Zhang Y, Pang ZD, Wang HF, Ren YJ, Sadoshima J, Deng XL, Du XJ
Theranostics 2023;13(2):560-577. Epub 2023 Jan 1 doi: 10.7150/thno.79227. PMID: 36632235Free PMC Article
Nanoscale coordination polymers induce immunogenic cell death by amplifying radiation therapy mediated oxidative stress.
Huang Z, Wang Y, Yao D, Wu J, Hu Y, Yuan A
Nat Commun 2021 Jan 8;12(1):145. doi: 10.1038/s41467-020-20243-8. PMID: 33420008Free PMC Article
Acute intermittent porphyria: A case report.
Bustos J, Vargas L, Quintero R
Biomedica 2020 Mar 1;40(1):14-19. doi: 10.7705/biomedica.4767. PMID: 32220159Free PMC Article
The cutaneous porphyrias.
Schulenburg-Brand D, Katugampola R, Anstey AV, Badminton MN
Dermatol Clin 2014 Jul;32(3):369-84, ix. Epub 2014 May 5 doi: 10.1016/j.det.2014.03.001. PMID: 24891059

Prognosis

Single cell analysis of M. tuberculosis phenotype and macrophage lineages in the infected lung.
Pisu D, Huang L, Narang V, Theriault M, Lê-Bury G, Lee B, Lakudzala AE, Mzinza DT, Mhango DV, Mitini-Nkhoma SC, Jambo KC, Singhal A, Mwandumba HC, Russell DG
J Exp Med 2021 Sep 6;218(9) Epub 2021 Jul 22 doi: 10.1084/jem.20210615. PMID: 34292313Free PMC Article
Hepatic porphyria: A narrative review.
Arora S, Young S, Kodali S, Singal AK
Indian J Gastroenterol 2016 Nov;35(6):405-418. Epub 2016 Oct 31 doi: 10.1007/s12664-016-0698-0. PMID: 27796941
Porphyrias.
Kauppinen R
Lancet 2005 Jan 15-21;365(9455):241-52. doi: 10.1016/S0140-6736(05)17744-7. PMID: 15652607
Porphyric neuropathy.
Albers JW, Fink JK
Muscle Nerve 2004 Oct;30(4):410-22. doi: 10.1002/mus.20137. PMID: 15372536
Hepatoerythropoietic porphyria.
Czarnecki DB
Arch Dermatol 1980 Mar;116(3):307-11. PMID: 7369748

Clinical prediction guides

Bilirubin: The yellow hormone?
Vítek L, Tiribelli C
J Hepatol 2021 Dec;75(6):1485-1490. Epub 2021 Jun 18 doi: 10.1016/j.jhep.2021.06.010. PMID: 34153399
Heme biosynthesis and the porphyrias.
Phillips JD
Mol Genet Metab 2019 Nov;128(3):164-177. Epub 2019 Apr 22 doi: 10.1016/j.ymgme.2019.04.008. PMID: 31326287Free PMC Article
Translational regulation and deregulation in erythropoiesis.
Vatikioti A, Karkoulia E, Ioannou M, Strouboulis J
Exp Hematol 2019 Jul;75:11-20. Epub 2019 May 30 doi: 10.1016/j.exphem.2019.05.004. PMID: 31154069
Vitamin B12 modulates the transcriptome of the skin microbiota in acne pathogenesis.
Kang D, Shi B, Erfe MC, Craft N, Li H
Sci Transl Med 2015 Jun 24;7(293):293ra103. doi: 10.1126/scitranslmed.aab2009. PMID: 26109103Free PMC Article
Alcohol and porphyrin metabolism.
Doss MO, Kühnel A, Gross U
Alcohol Alcohol 2000 Mar-Apr;35(2):109-25. doi: 10.1093/alcalc/35.2.109. PMID: 10787385

Recent systematic reviews

HMOX1 genetic polymorphisms and outcomes in infectious disease: A systematic review.
Hamilton FW, Somers J, Mitchell RE, Ghazal P, Timpson NJ
PLoS One 2022;17(5):e0267399. Epub 2022 May 12 doi: 10.1371/journal.pone.0267399. PMID: 35551540Free PMC Article
Acquired erythropoietic protoporphyria: A systematic review of the literature.
Snast I, Kaftory R, Sherman S, Edel Y, Hodak E, Levi A, Lapidoth M
Photodermatol Photoimmunol Photomed 2020 Jan;36(1):29-33. Epub 2019 Aug 21 doi: 10.1111/phpp.12501. PMID: 31374130

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