Name
PORPHYRIA, CONGENITAL ERYTHROPOIETIC
DESCRIPTION
DETAIL
AUTOSOMAL RECESSIVE DISEASE ALSO CALLED AS GUNTHER DISEASE* UROPORPHYRINES & COPROPORPHYRIN ACCUMULATE IN BONE MARROW, URINE, FECES, RBC & PLASMA. * MARKEDLY DECREASED ACTIVITY OF URO-SYNTHASE ACTIVITY - CONFIRMATORY TEST
TYPENOTES
IN UTERO DIAGNOSIS CAN BE MADE BY MEASURING PORPHYRINS IN AMNIOTIC FLUID & URO-SYNTHASE ACTIVITY IN CULTURED AMNIOTIC CELLS OR CHORIONIC VILLITT : TRANSFUSION OF SUFFICIENT BLOOD BUT TAKE CARE OF IRON OVERLOAD. BONE MARROW TRANSPLANTATION IS EFFECTIVE. STEM CELL THERAPY MAY BE PROMISING.
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
COMPLETE BLOOD COUNT, URINE PORPHYRINS & PORPHOBILINOGENS, URINARY ALA