Medical Genetics What are the symptoms in IMD Metabolic Results in Onset Example de fect Energy Energy de ficit .Early Fatty acid oxidation de fect generation. Hypoglycemia First year of life when the baby need to generate his own(hy poke totic hypoglyce mia) Confusion energy Acute LOC .Under stress, when having other concurre nt illness. URT Intoxication,I Toxicitiy to Depends on exposure to toxic substance(could be early or Glutaric aciduria Type 1, accumulatio rain PKU n of toxic Liver Brain: seizure, confusion, coma, motor dysfunction. Tyrosine mia me tabolites· Kidney mental retardation Liver: cirrhosis, jaundice Inability to Storage diseases in: Usually late onset Mucopolysarrcharidos breakdown|· Liver Storage takes times to accumulate and uce s Glycogen storage diseases me tabolites· Muscle Brain . Leukocytes Urea cycle Unable to convert Neurological: vomiting, coma OTC ammonia to ure a A NH3 Citrulline mia Lactic Diffe re nt disorders A Lactate (from mild to severe) Kearn-Savre acidosis Clinical symptoms commonly specific for a particular MELAS dis order Reye’s Acute intoxication Depe nds on spe cific defect Various disorders syndrome he patic like ence phalopathyMedical Genetics Metabolic defect Results in Onset Example Energy generation •Energy deficit •Hypoglycemia •Confusion •Acute LOC •Coma •Early •First year of life when the baby need to generate his own energy •Under stress, when having other concurrent illness, URTI Fatty acid oxidation defect (hypoketotic hypoglycemia) Intoxication, accumulatio n of toxic metabolites Toxicitiy to •Brain •Liver •Kidney Depends on exposure to toxic substance (could be early or late) •Brain: seizure, confusion, coma, motor dysfunction, mental retardation •Liver: cirrhosis, jaundice Glutaric aciduria Type I, PKU Tyrosinemia Inability to breakdown metabolites Storage diseases in: •Liver •Muscle •Brain •Leukocytes Usually late onset Storage takes times to accumulate and produce symptoms Mucopolysarrcharidosis Glycogen storage diseases Urea cycle Unable to convert ammonia to urea Neurological: vomiting, coma ^^ NH3 OTC Citrullinemia Lactic acidosis Different disorders ^ Lactate (from mild to severe) Clinical symptoms commonly specific for a particular disorder Kearn-Sayre MELAS Reye’s syndrome like Acute intoxication → hepatic encephalopathy Depends on specific defect Various disorders What are the symptoms in IMD