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Reduced erythrocyte porphobilinogen deaminase activity

MedGen UID:
1051078
Concept ID:
CN375670
Finding
HPO: HP:4000199

Definition

Activity or concentration of in the level of porphobilinogen deaminase (EC 4.3.1.8) in erythrocytes below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced erythrocyte porphobilinogen deaminase activity

Conditions with this feature

Acute intermittent porphyria
MedGen UID:
56452
Concept ID:
C0162565
Disease or Syndrome
Acute intermittent porphyria (AIP), an autosomal dominant disorder, occurs in heterozygotes for an HMBS pathogenic variant that causes reduced activity of the enzyme porphobilinogen deaminase. AIP is considered "overt" in a heterozygote who was previously or is currently symptomatic; AIP is considered "latent" in a heterozygote who has never had symptoms, and typically has been identified during molecular genetic testing of at-risk family members. Note that GeneReviews does not use the term "carrier" for an individual who is heterozygous for an autosomal dominant pathogenic variant; GeneReviews reserves the term "carrier" for an individual who is heterozygous for an autosomal recessive disorder and thus is not expected to ever develop manifestations of the disorder. Overt AIP is characterized clinically by life-threatening acute neurovisceral attacks of severe abdominal pain without peritoneal signs, often accompanied by nausea, vomiting, tachycardia, and hypertension. Attacks may be complicated by neurologic findings (mental changes, convulsions, and peripheral neuropathy that may progress to respiratory paralysis), and hyponatremia. Acute attacks, which may be provoked by certain drugs, alcoholic beverages, endocrine factors, calorie restriction, stress, and infections, usually resolve within two weeks. Most individuals with AIP have one or a few attacks; about 3%-8% (mainly women) have recurrent attacks (defined as >3 attacks/year) that may persist for years. Other long-term complications are chronic renal failure, hepatocellular carcinoma (HCC), and hypertension. Attacks, which are very rare before puberty, are more common in women than men. Latent AIP. While all individuals heterozygous for an HMBS pathogenic variant that predisposes to AIP are at risk of developing overt AIP, most have latent AIP and never have symptoms.

Recent clinical studies

Etiology

Li S, Lei JJ, Dong BX, Ren Y, Yang J
Medicine (Baltimore) 2023 Sep 29;102(39):e35144. doi: 10.1097/MD.0000000000035144. PMID: 37773850Free PMC Article
Berkovitch-Luria G, Yakobovitch S, Weitman M, Nudelman A, Rozic G, Rephaeli A, Malik Z
Eur J Pharm Sci 2012 Aug 30;47(1):206-14. Epub 2012 Jun 13 doi: 10.1016/j.ejps.2012.05.017. PMID: 22705251
Santos JL, Fontanellas A, Batlle AM, Enríquez de Salamanca RE
Ecotoxicol Environ Saf 1998 Mar;39(3):168-71. doi: 10.1006/eesa.1997.1613. PMID: 9570906
el-Sharabasy MM, el-Waseef AM, Hafez MM, Salim SA
Br J Cancer 1992 Mar;65(3):409-12. doi: 10.1038/bjc.1992.83. PMID: 1558795Free PMC Article
Meissner PN, Day RS, Moore MR, Disler PB, Harley E
Eur J Clin Invest 1986 Jun;16(3):257-61. doi: 10.1111/j.1365-2362.1986.tb01339.x. PMID: 3015635

Diagnosis

Li S, Lei JJ, Dong BX, Ren Y, Yang J
Medicine (Baltimore) 2023 Sep 29;102(39):e35144. doi: 10.1097/MD.0000000000035144. PMID: 37773850Free PMC Article
Linenberger M, Fertrin KY
Hematology Am Soc Hematol Educ Program 2020 Dec 4;2020(1):400-410. doi: 10.1182/hematology.2020000124. PMID: 33275677Free PMC Article
Hindmarsh JT, Oliveras L, Greenway DC
Clin Biochem 1999 Nov;32(8):609-19. doi: 10.1016/s0009-9120(99)00067-3. PMID: 10638943
Santos JL, Fontanellas A, Batlle AM, Enríquez de Salamanca RE
Ecotoxicol Environ Saf 1998 Mar;39(3):168-71. doi: 10.1006/eesa.1997.1613. PMID: 9570906
Meissner PN, Day RS, Moore MR, Disler PB, Harley E
Eur J Clin Invest 1986 Jun;16(3):257-61. doi: 10.1111/j.1365-2362.1986.tb01339.x. PMID: 3015635

Therapy

Schauder A, Feuerstein T, Malik Z
Photochem Photobiol Sci 2011 Aug;10(8):1310-7. Epub 2011 Jun 9 doi: 10.1039/c1pp05085k. PMID: 21655622
Hernández-Zavala A, Del Razo LM, García-Vargas GG, Aguilar C, Borja VH, Albores A, Cebrián ME
Arch Toxicol 1999 Mar;73(2):90-5. doi: 10.1007/s002040050592. PMID: 10350189
Haust HL, Poon HC, Carson R, VanDeWetering C, Peter F
Clin Biochem 1989 Jun;22(3):201-11. doi: 10.1016/s0009-9120(89)80078-5. PMID: 2500271
Buchet JP, Lauwerys R, Hassoun A, Dratwa M, Wens R, Collart F, Tielemans C
Nephron 1987;46(4):360-3. doi: 10.1159/000184390. PMID: 3658064

Clinical prediction guides

Unzu C, Sampedro A, Mauleón I, Vanrell L, Dubrot J, de Salamanca RE, González-Aseguinolaza G, Melero I, Prieto J, Fontanellas A
J Hepatol 2010 Mar;52(3):417-24. Epub 2009 Sep 23 doi: 10.1016/j.jhep.2009.09.003. PMID: 19815305
Tishler PV
Life Sci 1999;65(2):207-14. doi: 10.1016/s0024-3205(99)00237-4. PMID: 10416826
Hernández-Zavala A, Del Razo LM, García-Vargas GG, Aguilar C, Borja VH, Albores A, Cebrián ME
Arch Toxicol 1999 Mar;73(2):90-5. doi: 10.1007/s002040050592. PMID: 10350189
Buchet JP, Lauwerys R, Hassoun A, Dratwa M, Wens R, Collart F, Tielemans C
Nephron 1987;46(4):360-3. doi: 10.1159/000184390. PMID: 3658064
Anderson PM, Reddy RM, Anderson KE, Desnick RJ
J Clin Invest 1981 Jul;68(1):1-12. doi: 10.1172/jci110223. PMID: 7251856Free PMC Article

Recent systematic reviews

Li S, Lei JJ, Dong BX, Ren Y, Yang J
Medicine (Baltimore) 2023 Sep 29;102(39):e35144. doi: 10.1097/MD.0000000000035144. PMID: 37773850Free PMC Article

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