Inborn Erros of Metabolism

1. Inborn Errors of Metabolism Namrata Singh M.D

16. HYPERAMMONEMIA RESP ALKALOSIS ACIDOSIS UREA CYCLE DEFECTS TRANSIENT HYPERAMMONEMIA OF NEWBORN ORGANIC ACIDEMIAS SE CITRULLINE—LOW– EARLY UREA CYCLE DEFECT SLIGHTLY ELEV– TRANSIENT HYPERAMMONEMIA OF NB MARKEDLY ELEV– CITRULLINEMIA & ARGINOSUCCINIC ACIDEMIA

33. INITIAL FINDINGS ( POOR FEEDING , VOMITING , LETHARGY, CONVULSIONS ,COMA ) METABOLIC DISORDER INFECTION OBTAIN PL. NH3 HIGH NORMAL OBTAIN BLOOD Ph & CO2 OBTAIN BLOOD Ph & CO2 NORMAL ACIDOSIS NORMAL UREA CYCLE DEFECTS ORGANIC ACIDEMIAS AMINOACIDOPATHIES GALACTOSEMIA