Dubin-Johnson syndrome in a neonate.
We described the clinical and biochemical findings in a 32 day-old boy with the Dubin-Johnson syndrome. Only two other patients diagnosed as having the Dubin-Johnson syndrome during neonatal period have been reported in the literature. The ratio of urinary coproporphyrin isomer I of our patient was 97% and that of his parents were carrier level, confirming that increased urinary excretion of coproporphyrin isomer I is of diagnostic value in neonates with the Dubin-Johnson syndrome.
D003306:Coproporphyrins / Q000652:urine; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis* / Q000235:genetics; D007566:Jaundice, Chronic Idiopathic / Q000175:diagnosis* / Q000235:genetics / Q000652:urine; D008297:Male; D010375:Pedigree
D003306:Coproporphyrins