[Enzymatic and molecular studies in a case of hepato-erythropoietic porphyria. Homozygote form of type familial cutaneous porphyria].Arch Fr Pediatr. 1992 Dec; 49(10):907-11.AF
Porphyrias are either hepatic or erythroid, depending on the principal site of the specific enzymatic defect. Homozygous uroporphyrinogen decarboxylase deficiency, known as hepato-erythropoietic porphyria (HEP), can involve several mutations.
A young man, aged 20 years, had gradually developed photosensitivity since the age of 1 year, leading to hypertrichosis and sclerodermoid changes in sun-exposed areas of skin. He displayed high urinary uroporphyrin and 7-carboxylic porphyrins, and elevated fecal and red blood cell iso-coproporphyrin and coproporphyrin. Erythrocyte uroporphyrinogen decarboxylase activity of the patient was reduced to 18% of normal control values, while those of his grandmother and his half-brother were 62-65% of normal.
Amplification of the genomic DNA by PCR and hybridization with allele-specific oligonucleotides (ASOs) demonstrated the presence of a Gly 281-->Glu mutation in the patient and in his grandmother and half-brother.
Enzymatic studies and details of the familial lineage are important for precisely classifying this type of porphyria. Molecular biology studies are necessary before considering any future gene therapy.