congenital erythropoietic porphyria (CEP, Gunther's disease)

Epidemiology

rare

Pathology

• red urine is a result of excretion of coproporphyrin I & uroporphyrinogen I
• deficiency in uroporphyrinogen III cosynthase (UROS) results in non-enzymatic conversion of hydroxymethylbilane into uroporphyrinogen I

Genetics

• autosomal recessive
• associated with defects in UROS

Clinical manifestations

• 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
• generally manifests shortly after birth
• red-pigmented urine
• erythrodontia (red-stained teeth)
• hemolytic anemia
• skin lesions may be severely mutilating
  • severe cutaneous photosensitivity
  • blisters
  • scarring alopecia
  • hirsuitism
• splenomegaly & early demise occur

* images

More general terms

• porphyria

Additional terms

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

Database

• OMIM: https://mirror.omim.org/entry/263700