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congenital erythropoietic porphyria (CEP, Gunther's disease)

Epidemiology: rare Genetics: - autosomal recessive - associated with defects in UROS Pathology: 1) red urine is a result of excretion of coproporphyrin I & uroporphyrinogen I 2) deficiency in uroporphyrinogen III cosynthase (UROS) results in non-enzymatic conversion of hydroxymethylbilane into uroporphyrinogen I Clinical manifestations: 1) heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life 2) generally manifests shortly after birth 3) red-pigmented urine 4) erythrodontia (red-stained teeth) 5) hemolytic anemia 6) skin lesions may be severely mutilating a) severe cutaneous photosensitivity b) blisters c) scarring alopecia d) hirsuitism 7) splenomegaly & early demise occur * images [4]

Related

coproporphyrinogen I heme synthesis uroporphyrinogen I uroporphyrinogen-III synthase; UROIIIS; UROS; hydroxymethylbilane hydrolyase [cyclizing]; uroporphyrinogen-III cosynthase (UROS)

General

porphyria

Properties

ACCUMULATION: uroporphyrinogen I coproporphyrinogen I DEFICIENCY: uroporphyrinogen-III synthase

Database Correlations

OMIM 263700

References

  1. Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 1012
  2. Clinical Diagnosis & Management by Laboratory Methods, 19th edition, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1996, pg 172
  3. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 179
  4. Hsiao YW, Chiou TJ, Huang YC Late-Onset Congenital Erythropoietic Porphyria. JAMA Dermatol. Published online December 29, 2021 PMID: 34964809 https://jamanetwork.com/journals/jamadermatology/fullarticle/2787676