[Congenital erythropoietic porphyria. Apropos of a fatal case in the neonatal period due to acute hemolysis with hepatic failure].
BACKGROUND
Congenital erythropoietic porphyria, an autosomal recessive disease, is characterized by deficiency of uroporphyrinogen III synthase. Clinical variability of the disease is related to the different mutations found in the patients.


METHODS
A newborn suffered one hour after birth from jaundice and polypnea with acute hemolysis. Severe cutaneous photosensitivity occurred after phototherapy. Congenital erythropoietic porphyria was suspected because of reddish-colored urine and confirmed by porphyrin analyses. The baby died one month later due to severe hemolytic anemia with hepatic failure. Uroporphyrinogen III synthase activity was decreased by 99% in bone marrow cells and established lymphoblastoid cells from the patient. Molecular biology studies demonstrated the presence of the Cys 73-->Arg substitution at the homozygous state in the patient.


CONCLUSIONS
This mutation, the most frequently found in this disease, is responsible for a severe phenotype. Molecular characterization provides genotype/phenotype correlations in this porphyria and allows to clarify unusual cases of porphyrias.
de Verneuil
H
H
Laboratoire de biochimie médicale et biologie moléculaire, université de Bordeaux II, France.
Moreau-Gaudry
F
F
Ged
C
C
Bensidhoum
M
M
Hombrados
I
I
Tricoire
J
J
Rolland
M
M
D000208:Acute Disease; D004899:Erythroblastosis, Fetal / Q000150:complications*; D017809:Fatal Outcome; D006461:Hemolysis; D006801:Humans; D007231:Infant, Newborn; D017093:Liver Failure / Q000150:complications*; D008297:Male; D017092:Porphyria, Erythropoietic / Q000201:enzymology / Q000235:genetics / Q000378:metabolism*; D011166:Porphyrins / Q000378:metabolism; D014576:Uroporphyrinogen III Synthetase / Q000378:metabolism
D011166:Porphyrins; D014576:Uroporphyrinogen III Synthetase