U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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
Poh-Fitzpatrick MB
Clin Dermatol 1985 Apr-Jun;3(2):41-82. doi: 10.1016/0738-081x(85)90034-3. PMID: 3916834
Sherlock S
Annu Rev Med 1976;27:143-9. doi: 10.1146/annurev.me.27.020176.001043. PMID: 180870

Recent clinical studies

Etiology

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
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
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
Scarlett YV, Brenner DA
J Clin Gastroenterol 1998 Oct;27(3):192-8. doi: 10.1097/00004836-199810000-00003. PMID: 9802444
Moore MR, McColl KE, Fitzsimons EJ, Goldberg SA
Blood Rev 1990 Jun;4(2):88-96. doi: 10.1016/0268-960x(90)90031-m. PMID: 2194599

Diagnosis

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
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
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
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
Czarnecki DB
Arch Dermatol 1980 Mar;116(3):307-11. PMID: 7369748

Therapy

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
Bustos J, Vargas L, Quintero R
Biomedica 2020 Mar 1;40(1):14-19. doi: 10.7705/biomedica.4767. PMID: 32220159Free PMC Article
Fontanellas A, Ávila MA, Anderson KE, Deybach JC
J Hepatol 2019 Aug;71(2):422-433. Epub 2019 May 16 doi: 10.1016/j.jhep.2019.05.003. PMID: 31102718
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
Orrell RW
Curr Opin Investig Drugs 2006 Jan;7(1):70-80. PMID: 16425674

Prognosis

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
Kauppinen R
Lancet 2005 Jan 15-21;365(9455):241-52. doi: 10.1016/S0140-6736(05)17744-7. PMID: 15652607
Albers JW, Fink JK
Muscle Nerve 2004 Oct;30(4):410-22. doi: 10.1002/mus.20137. PMID: 15372536
Ahmed I
Mayo Clin Proc 2002 Aug;77(8):825-36. doi: 10.4065/77.8.825. PMID: 12173716
Czarnecki DB
Arch Dermatol 1980 Mar;116(3):307-11. PMID: 7369748

Clinical prediction guides

Xu S, Cui K, Long K, Li J, Fan N, Lam WC, Liang X, Wang W
Adv Sci (Weinh) 2023 Nov;10(31):e2301985. Epub 2023 Sep 14 doi: 10.1002/advs.202301985. PMID: 37705491Free PMC Article
Beale AD, Hayter EA, Crosby P, Valekunja UK, Edgar RS, Chesham JE, Maywood ES, Labeed FH, Reddy AB, Wright KP Jr, Lilley KS, Bechtold DA, Hastings MH, O'Neill JS
EMBO J 2023 Oct 4;42(19):e114164. Epub 2023 Aug 9 doi: 10.15252/embj.2023114164. PMID: 37554073Free PMC Article
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
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
Haider S, Islam B, D'Atri V, Sgobba M, Poojari C, Sun L, Yuen T, Zaidi M, New MI
Proc Natl Acad Sci U S A 2013 Feb 12;110(7):2605-10. Epub 2013 Jan 28 doi: 10.1073/pnas.1221133110. PMID: 23359706Free PMC Article

Recent systematic reviews

Heerfordt IM, Lerche CM, Philipsen PA, Wulf HC
Biomed Pharmacother 2023 Feb;158:114132. Epub 2022 Dec 14 doi: 10.1016/j.biopha.2022.114132. PMID: 36525819
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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...