Jyoti, eight and half years old female child was brought to me with following positive points and investigations: Consanguineous parents ( father and mother were real cousins before marriage) Yellow eyes, anasarca with ascites, red urine ( duration 1 month) with ? burning micturition Past history of hospitalization before five years for fever with altered sensorium –recovered smoothly and completely Family history of consanguinity Two previous male sibs died. First at 7 years age. Cause not known. But he had some ?renal problem at the time of death. Second male sib died at 13 years age with ?chronic liver disease.(papers are not available). Third male sib has mental retardation with gait disturbances. she has apparently normal male sibs, one 23 year old and another 11 years old. On examination , Temp normal . pulse 108/min,BP 130/70 mmof Hg Yellow sclera, anemia, anasarca, ascites, liver 1.5 cm and spleen 1 cm below costal margin Conscious alert awake ,not looking ill Investigations, Hb 9.9 TC 12,100 s.bil total 1.9 ( normal upto 1.2) direct 1.4 ( normal upto 0.4) indirect 0.5 (normal 0.1 to 1.0) SGPT 82 , s. alk phosphatase normal s. protein total 6.1, albumin 2.76, globulin 3.39 bl sugar random 170 urine albumin trace, urine sugar ++ ( child had sugarcane juice prior to urine report but not prior to blood reports), pus cells 13 /hpf and plenty of RBCs/hpf USG abdomen showing right renal and ureteric calculus with mild hydronephrosis with hydroureter. Our further plans: Urine for metabolic screening Bl urea creatinine Liver viral serology and wilson’s disease profile Are we dealing with genetic / metabolic disorder? Can u guide us further?