Diagnosis
About IEMs
MDDA supports families and individuals affected by Inborn Errors of Metabolism (IEM) whereby treatment involves a medically controlled diet and prescribed supplement. The inherited metabolic diseases are classified as disorders of amino acid metabolism, urea cycle metabolism, & organic acid metabolism. Metabolic Disorders are grouped according to the type of food that cannot be broken down properly.
Inborn Errors of Protein Metabolism
Urea Cycle Disorders (UCD)
Ornithine Transcarbamylase Deficiency (OTC)
Citrullinaemia
Argininosuccinic Acidaemia (ASA)
Arginase Deficiency (ARG)
Other rarer IEM of protein: Orthine Aminotransferase Deficiency (OAT), Lysinic Protein Intolerance (LPI), Non-ketonic Hyperglycinaemia (NKH) & HMG – COA Lyase Deficiency
Other Inborn Errors of Metabolism
Carbohydrate Metabolism
Galactosaemia Glycogen Storage Disorders Fructose Metabolism DisordersFat Metabolism
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) Long-Chain Hydroxyacyl-COA Dehdrogenase