Metabolism is the process your body uses to make energy from the food you eat. Food is broken down into sugar and acids and your body can use this energy now or store it for later. If you have a metabolic disorder something goes wrong with this process.
Inborn Errors of Metabolism (IEM) are genetic, meaning that they are inherited at birth and most are diagnosed through the newborn screening test. Because the disorders can be serious, early diagnosis and treatment are critical.
IEMs are grouped according to the type of food that cannot be broken down properly. Inherited protein metabolic diseases (IEpM) are classified as disorders of amino acid metabolism, urea cycle metabolism, and organic acid metabolism. For those with an IEpM a build-up of waste components can damage the nervous system resulting in intellectual disability, liver problems or other serious sometimes life-threatening health problems.
Treatment for IEpMs involves a medically low protein-controlled diet, medicines and prescribed supplement. Infants who start treatment early in life can grow and develop normally. The recommendation is to maintain dietary management and treatment for life to ensure normal growth and development.
Protein Metabolic Disorders:
Amino Acid Disorders
+ Tyrosinaemia Type 1&2 (TYRO)
+ Maple Syrup Urine Disease (MSUD)
Urea Cycle Disorders
+ Ornithine Transcarbamylase Deficiency (OTC)
+ Argininosuccinic Acidaemia (ASA)