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Increased fecal coproporphyrin 3

MedGen UID:
1711423
Concept ID:
C5397996
Finding
Synonyms: Elevated faecal coproporphyrin 3; Elevated fecal coproporphyrin 3; Elevated stool coproporphyrin 3; High faecal coproporphyrin 3; High fecal coproporphyrin 3; High stool coproporphyrin 3; Increased faecal coproporphyrin 3
 
HPO: HP:0033010

Definition

Abnormally high concentration of coproporphyrin 3 in feces [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased fecal coproporphyrin 3

Conditions with this feature

Hereditary coproporphyria
MedGen UID:
57931
Concept ID:
C0162531
Disease or Syndrome
Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in discrete episodes. Attacks typically start in the abdomen with low-grade pain that slowly increases over a period of days (not hours) with nausea progressing to vomiting. In some individuals, the pain is predominantly in the back or extremities. When an acute attack is untreated, a motor neuropathy may develop over a period of days or a few weeks. The neuropathy first appears as weakness proximally in the arms and legs, then progresses distally to involve the hands and feet. Some individuals experience respiratory insufficiency due to loss of innervation of the diaphragm and muscles of respiration. Acute attacks are associated commonly with use of certain medications, caloric deprivation, and changes in female reproductive hormones. About 20% of those with an acute attack also experience photosensitivity associated with bullae and skin fragility.

Recent clinical studies

Etiology

Whatley SD, Mason NG, Woolf JR, Newcombe RG, Elder GH, Badminton MN
Clin Chem 2009 Jul;55(7):1406-14. Epub 2009 May 21 doi: 10.1373/clinchem.2008.122564. PMID: 19460837
Kühnel A, Gross U, Doss MO
Clin Biochem 2000 Aug;33(6):465-73. doi: 10.1016/s0009-9120(00)00159-4. PMID: 11074238
Mustajoki P
Q J Med 1980 Spring;49(194):191-203. PMID: 7433635

Diagnosis

Kühnel A, Gross U, Doss MO
Clin Biochem 2000 Aug;33(6):465-73. doi: 10.1016/s0009-9120(00)00159-4. PMID: 11074238
Kühnel A, Gross U, Jacob K, Doss MO
Clin Chim Acta 1999 Apr;282(1-2):45-58. doi: 10.1016/s0009-8981(99)00036-4. PMID: 10340433
Verstraeten L, Van Regemorter N, Pardou A, de Verneuil H, Da Silva V, Rodesch F, Vermeylen D, Donner C, Noël JC, Nordmann Y
Eur J Clin Chem Clin Biochem 1993 Mar;31(3):121-8. doi: 10.1515/cclm.1993.31.3.121. PMID: 8490057
Frank M, Doss M, de Carvalho DG
Hepatogastroenterology 1990 Feb;37(1):147-51. PMID: 2312040
Rocchi E, Gibertini P, Santunione V, Balli F, Ventura E
Ric Clin Lab 1980 Jul-Sep;10(3):501-9. doi: 10.1007/BF02938796. PMID: 7423094

Therapy

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
Kühnel A, Gross U, Doss MO
Clin Biochem 2000 Aug;33(6):465-73. doi: 10.1016/s0009-9120(00)00159-4. PMID: 11074238
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
Moder KG, Schwenk NM
Mayo Clin Proc 1991 Mar;66(3):312-6. doi: 10.1016/s0025-6196(12)61014-3. PMID: 2002689
Timonen K, Mustajoki P, Tenhunen R, Lauharanta J
Br J Dermatol 1990 Sep;123(3):381-7. doi: 10.1111/j.1365-2133.1990.tb06299.x. PMID: 2206975

Prognosis

Thunell S, Holmberg L, Lundgren J
J Clin Chem Clin Biochem 1987 Jan;25(1):5-14. doi: 10.1515/cclm.1987.25.1.5. PMID: 3559484
Mustajoki P
Q J Med 1980 Spring;49(194):191-203. PMID: 7433635

Clinical prediction guides

Doss MO, Stauch T, Gross U, Renz M, Akagi R, Doss-Frank M, Seelig HP, Sassa S
J Inherit Metab Dis 2004;27(4):529-36. doi: 10.1023/B:BOLI.0000037341.21975.9d. PMID: 15303011
Kühnel A, Gross U, Doss MO
Clin Biochem 2000 Aug;33(6):465-73. doi: 10.1016/s0009-9120(00)00159-4. PMID: 11074238
Kühnel A, Gross U, Jacob K, Doss MO
Clin Chim Acta 1999 Apr;282(1-2):45-58. doi: 10.1016/s0009-8981(99)00036-4. PMID: 10340433
Verstraeten L, Van Regemorter N, Pardou A, de Verneuil H, Da Silva V, Rodesch F, Vermeylen D, Donner C, Noël JC, Nordmann Y
Eur J Clin Chem Clin Biochem 1993 Mar;31(3):121-8. doi: 10.1515/cclm.1993.31.3.121. PMID: 8490057
Topi G, D'Alessandro Gandolfo L
Br J Dermatol 1977 Dec;97(6):617-27. doi: 10.1111/j.1365-2133.1977.tb14268.x. PMID: 603745

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