| || || || |
The Food We Eat.
The food we eat contains fat, carbohydrate and protein, which need to undergo a series of chemical reactions to change them into a form which the body can use for growth or energy. This process is called metabolism. Each chemical reaction is controlled by an individual special protein called an enzyme. Inborn errors of metabolism, abbreviated to IEM (or metabolic disorders) result when a particular enzyme does not work properly. Left untreated, failure or deficiency of the particular enzyme can lead to symptoms ranging from feeling vaguely unwell to being so acutely ill that admission to an intensive care unit may be necessary. With time, mild to severe brain damage, physical disablement or death can occur.
Metabolic disorders are genetic conditions, usually inherited as a recessive trait from both parents (meaning both parents carry the gene and all their children will have a one in four or 25% chance of inheriting the metabolic disorder). Most parents do not know they are carriers and the diagnosis of a baby or child with an IEM usually comes as a huge shock to the family. Diagnosis usually occurs because the newborn has been identified through the "heel prick test", taken within 72 hours of birth.
**It is important to remember that, in areas where Tandem Mass Spectroscopy newborn screening has only recently been introduced in some Australian states (2000), diagnosis for many disorders only takes place after clinical symptoms occur. In many of these cases, some physical and/or brain damage has already been done by the time symptoms have developed. It is widely believed that a small number of "cot death" or Sudden Infant Death Syndrome cases, are in fact, undiagnosed metabolic disorders. This is not a concern for those who are living in States that use TMS newborn screening**