The Metabolic Medicine Department deal with a number of different conditions. The majority of the following conditions will be treated by special diets and appropriate medication.
Phenylketonuria is an inherited condition caused by a deficiency in the enzyme phenylalanine hydroxylase. When untreated it can result primarily in mental retardation. Dietary restrictions must be maintained through the lifetime of an affected individual to ensure a good outcome.
With Medium chain acyl CoA dehydrogenase deficiency (MCAD) disease the body is unable to use fat as an energy supply and any medical complications should be preventable once diagnosis and management are established.
Maple syrup urine disease (MSUD) is a disorder in the body’s ability to use three of the essential amino acids in protein. This disease presents very dramatic signs in the newborn period such as poor feeding, lethargy or convulsions occurring within the first few days of life.
Glycogen storage disease (GSD) is a deficiency of any of the enzymes responsible for forming or releasing glycogen. Glycogen is needed by the body during exercise and/or between meals. There are many forms of GSD and they affect the liver and the muscles. The mainstay of treatment of GSD is frequent feeding.
Galactosaemia is a rare genetic metabolic disorder that affects an individual's ability to metabolise the sugar galactose properly.
Organic and amino acidopathies
Organic and amino acidopathies refer to a range of conditions causing problems in the breakdown of protein.
Urea cycle defects
Urea cycle defects are genetic disorders caused by a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.
Hyperlipidaemia is a condition in which levels of particular lipids or lipoproteins are abnormally raised in the blood. Very often several family members are affected.
Congenital disorders of glycosylation
Congenital disorders of glycosylation are a novel group of rare metabolic diseases caused by defects in protein glycosylation. The defects can result in mental retardation, severe disease and physical handicap.
Lysosomal storage disorders
Lysosomal storage disorders are due to different enzyme deficiencies in the breakdown of complex molecules.
The lack of certain enzymes causes a build up of the substance that the enzyme would normally eliminate. This can result in abnormal storage and can cause inefficient functioning and damage of the body's cells, which can lead to serious health problems.
Examples of lysomal storage disorders include Fabry disease which causes kidney and heart problems, pain and a skin rash; Gaucher disease which causes the spleen to enlarge, anaemia and bone lesions if untreated and Hurler syndrome which causes deformities of the skeleton and facial features, mental retardation and deafness.
Others include Niemann-Pick B disease which leads to enlargement of the spleen and liver, as well as lung disease; Pompe disease where glycogen builds up in the liver, heart and muscle, especially during infancy and Tay-Sachs disease which is a lysosomal storage disease that causes degeneration of the brain in infants.