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Elevated urinary porphyrin level

MedGen UID:: 1053144
•Concept ID:: CN377367
•: Finding

HPO:	HP:6000535

Definition

The amount of a porphyrin compound in the urine, normalized for urine concentration, is above the upper limit of normal. Porphrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. Porpyrins giove rise to heme and combalamine. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVElevated urinary porphyrin level

Abnormality of the genitourinary system
- Abnormality of the urinary system
  - Abnormality of the urinary system physiology
    - Abnormality of urine homeostasis
      - Abnormal urine metabolite level
        Abnormal urinary organic compound level
        Elevated urinary porphyrin level
        Elevated urinary coproporphyrin level
        Elevated urinary uroporphyrin level

Recent clinical studies

Etiology

Porphyrinuria in Autism Spectrum Disorder: A Review.

Bjørklund G, Semenova Y, El-Ansary A, Al-Ayadhi LY
Curr Med Chem 2024;31(42):6911-6925. doi: 10.2174/0109298673259183231117073347. PMID: 38031776

Urinary coproporphyrins as a diagnostic biomarker of Dubin-Johnson syndrome in neonates: A diagnostic pathway is proposed.

Al-Hussaini A, Asery A, Alharbi O
Saudi J Gastroenterol 2023 May-Jun;29(3):183-190. doi: 10.4103/sjg.sjg_480_22. PMID: 37313948 Free PMC Article

RNA interference therapy in acute hepatic porphyrias.

Yasuda M, Keel S, Balwani M
Blood 2023 Nov 9;142(19):1589-1599. doi: 10.1182/blood.2022018662. PMID: 37027823 Free PMC Article

Urinary porphyrin excretion in neurotypical and autistic children.

Woods JS, Armel SE, Fulton DI, Allen J, Wessels K, Simmonds PL, Granpeesheh D, Mumper E, Bradstreet JJ, Echeverria D, Heyer NJ, Rooney JP
Environ Health Perspect 2010 Oct;118(10):1450-7. Epub 2010 Jun 24 doi: 10.1289/ehp.0901713. PMID: 20576582 Free PMC Article

Elevated urinary excretion of beta-aminoisobutyric acid and exposure to inorganic lead.

Farkas WR, Fischbein A, Solomon S, Buschman F, Borek E, Sharma OK
Arch Environ Health 1987 Mar-Apr;42(2):96-9. doi: 10.1080/00039896.1987.9935803. PMID: 3579372

See all (27)

Diagnosis

Urinary coproporphyrins as a diagnostic biomarker of Dubin-Johnson syndrome in neonates: A diagnostic pathway is proposed.

Al-Hussaini A, Asery A, Alharbi O
Saudi J Gastroenterol 2023 May-Jun;29(3):183-190. doi: 10.4103/sjg.sjg_480_22. PMID: 37313948 Free PMC Article

Pathogenesis of acute encephalopathy in acute hepatic porphyria.

Pischik E, Baumann K, Karpenko A, Kauppinen R
J Neurol 2023 May;270(5):2613-2630. Epub 2023 Feb 9 doi: 10.1007/s00415-023-11586-5. PMID: 36757574 Free PMC Article

A Pharmacologic "Stress Test" for Assessing Select Antioxidant Defenses in Patients with CKD.

Zager RA, Johnson ACM, Guillem A, Keyser J, Singh B
Clin J Am Soc Nephrol 2020 May 7;15(5):633-642. Epub 2020 Apr 14 doi: 10.2215/CJN.15951219. PMID: 32291269 Free PMC Article

A first report of porphyria cutanea tarda successfully treated with glycyrrhizin.

Li Y, Yu N, Han D, Ding Y, Xu Y
Dermatol Ther 2019 Sep;32(5):e13014. Epub 2019 Jul 15 doi: 10.1111/dth.13014. PMID: 31269308

Urinary porphyrin excretion in neurotypical and autistic children.

See all (36)

Therapy

Effects of rifampicin on porphyrin metabolism in healthy volunteers.

Tolonen H, Ranta S, Hämäläinen E, Kauppinen R, Hukkanen J
Basic Clin Pharmacol Toxicol 2023 Mar;132(3):281-291. Epub 2022 Dec 26 doi: 10.1111/bcpt.13826. PMID: 36535687

A Pharmacologic "Stress Test" for Assessing Select Antioxidant Defenses in Patients with CKD.

Zager RA, Johnson ACM, Guillem A, Keyser J, Singh B
Clin J Am Soc Nephrol 2020 May 7;15(5):633-642. Epub 2020 Apr 14 doi: 10.2215/CJN.15951219. PMID: 32291269 Free PMC Article

A first report of porphyria cutanea tarda successfully treated with glycyrrhizin.

Li Y, Yu N, Han D, Ding Y, Xu Y
Dermatol Ther 2019 Sep;32(5):e13014. Epub 2019 Jul 15 doi: 10.1111/dth.13014. PMID: 31269308

Porphyrinuria in Korean children with autism: correlation with oxidative stress.

Youn SI, Jin SH, Kim SH, Lim S
J Toxicol Environ Health A 2010;73(10):701-10. doi: 10.1080/15287391003614000. PMID: 20391113

Hepatic complications of erythropoietic protoporphyria.

Gross U, Frank M, Doss MO
Photodermatol Photoimmunol Photomed 1998 Apr;14(2):52-7. doi: 10.1111/j.1600-0781.1998.tb00011.x. PMID: 9638724

See all (28)

Prognosis

Urinary coproporphyrins as a diagnostic biomarker of Dubin-Johnson syndrome in neonates: A diagnostic pathway is proposed.

Al-Hussaini A, Asery A, Alharbi O
Saudi J Gastroenterol 2023 May-Jun;29(3):183-190. doi: 10.4103/sjg.sjg_480_22. PMID: 37313948 Free PMC Article

A Pharmacologic "Stress Test" for Assessing Select Antioxidant Defenses in Patients with CKD.

Zager RA, Johnson ACM, Guillem A, Keyser J, Singh B
Clin J Am Soc Nephrol 2020 May 7;15(5):633-642. Epub 2020 Apr 14 doi: 10.2215/CJN.15951219. PMID: 32291269 Free PMC Article

Time-course effect of high-glucose-induced reactive oxygen species on mitochondrial biogenesis and function in human renal mesangial cells.

Al-Kafaji G, Sabry MA, Skrypnyk C
Cell Biol Int 2016 Jan;40(1):36-48. Epub 2015 Sep 1 doi: 10.1002/cbin.10520. PMID: 26251331

Are urinary porphyrins a valid diagnostic biomarker of autism spectrum disorder?

Shandley K, Austin DW, Bhowmik JL
Autism Res 2014 Oct;7(5):535-42. Epub 2014 Apr 22 doi: 10.1002/aur.1385. PMID: 24756868

Children with moderately elevated blood lead levels: a role for other diagnostic tests?

Markowitz ME, Clemente I, Rosen JF
Environ Health Perspect 1997 Oct;105(10):1084-8. doi: 10.1289/ehp.971051084. PMID: 9349832 Free PMC Article

See all (8)

Clinical prediction guides

Urinary coproporphyrins as a diagnostic biomarker of Dubin-Johnson syndrome in neonates: A diagnostic pathway is proposed.

Al-Hussaini A, Asery A, Alharbi O
Saudi J Gastroenterol 2023 May-Jun;29(3):183-190. doi: 10.4103/sjg.sjg_480_22. PMID: 37313948 Free PMC Article

A Pharmacologic "Stress Test" for Assessing Select Antioxidant Defenses in Patients with CKD.

Zager RA, Johnson ACM, Guillem A, Keyser J, Singh B
Clin J Am Soc Nephrol 2020 May 7;15(5):633-642. Epub 2020 Apr 14 doi: 10.2215/CJN.15951219. PMID: 32291269 Free PMC Article

Porphyrinuria in Korean children with autism: correlation with oxidative stress.

Youn SI, Jin SH, Kim SH, Lim S
J Toxicol Environ Health A 2010;73(10):701-10. doi: 10.1080/15287391003614000. PMID: 20391113

Hereditary coproporphyria in Germany: clinical-biochemical studies in 53 patients.

Kühnel A, Gross U, Doss MO
Clin Biochem 2000 Aug;33(6):465-73. doi: 10.1016/s0009-9120(00)00159-4. PMID: 11074238

Elevated urinary excretion of beta-aminoisobutyric acid and exposure to inorganic lead.

Farkas WR, Fischbein A, Solomon S, Buschman F, Borek E, Sharma OK
Arch Environ Health 1987 Mar-Apr;42(2):96-9. doi: 10.1080/00039896.1987.9935803. PMID: 3579372

See all (24)

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Elevated urinary porphyrin level

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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