Medical Genetics What are the symptoms in IMD Metabolic Results in Onset Example de fect Energy Ene rgy de ficit Fatty acid oxidation de fect generation. Hypoglycemia First year of life when the baby need to generate his own(hypoke totic hypoglycemia Confusion ehergy · Acute loc .Under stress, when having other concurrent illness, URTI Intoxication, Toxicitiy to Depe nds on expos ure to toxic substance(could be early or Glutaric aciduria Type L, accumulatio· Brain late) PKU n of toxic Liver Brain: seizure, confusion, coma, motor dysfunction, Tyrosine mia me tabolites Kidne mental re tardation Liver: cirrhosis, jaundice Inability to Storage diseases in: Usually late onset Mucopolysarrchanidosis breakdown.Liver Storage takes times to accumulate and produce symptoms Glycogen storage diseases me tabolites· Muscle B Leukocytes Urea cycle Unable to convert Neurological: vomiting, coma OTC ammonia to ure a AA NH3 Citrullinemia Lactic Different disorders A Lactate(from mild to severe) Kearn-Sayre acidosis Clinical symptoms commonly specific for a particular MELAS disorder eve s Acute intoxication, Depends on specific defect Various disorders rome patie like encephalopathyMedical 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