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

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 Disorders

Fat Metabolism

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
Long-Chain Hydroxyacyl-COA Dehdrogenas