Crohn’s disease is a chronic inflammatory bowel disease. Inflammatory bowel disease (IBD) is a collective term used to describe illnesses that cause inflammation of the gastrointestinal tract. Ulcerative colitis and Crohn’s disease are the two most common of these illnesses. Unlike Ulcerative colitis, where the site of ulcer or inflammation is usually in the large bowel, Crohn’s disease can cause inflammation in one or more parts of the gastrointestinal tract lining, anywhere from mouth to anus. More.

Epilepsy is defined as a condition whereby an individual is prone to recurrent epileptic seizures. These can be defined as a change in motor function or behaviour, resulting from a change in electrical activity of the brain. There are many types of seizure which mean that the symptoms will vary. These seizures can occur without warning. More.

Galactosaemia is caused by a deficiency of the enzyme galactose-1-phosphate uridyl transferase, resulting in the accumulation of toxic metabolites of galactose. Dietary management aims to exclude galactose, replacing breast and cows’ milk sources (containing lactose) with a galactose and lactose free alternative. More.

Glutaric Aciduria Type I is a rare inherited disorder caused by a deficiency of glutaryl-CoA dehydrogenase, resulting in progressive neurological deterioration. The aim of dietary management is to limit lysine and tryptophan by means of a low protein diet. More.

Homocystinuria is a genetic disease in which incorrect metabolism of the amino acid methionine causes the amino acid homocysteine to accumulate in the blood and higher levels to be excreted in the urine. More.

Isovaleric acidaemia is an inherited condition in which abnormal metabolism of the amino acid leucine causes the fatty acid isovaleric acid to build up in the blood and urine. More.

Maple syrup urine disease is a genetic disease characterised by incomplete metabolism of the amino acids leucine, isoleucine and valine. It owes its unusual name to the characteristic sweet-smelling urine of those affected. More.

Methylmalonic acidaemia is a genetically inherited disease in which the body is unable to process certain amino acids and fats correctly. This leads to the accumulation of a molecule called methylmalonyl-CoA and other by-products in the blood, which poison the body and brain. Methylmalonyl-CoA is a form of methylmalonic acid. Methylmalonic acidaemia (-aemia = in the blood) is also known as methylmalonic aciduria (-uria = in the urine) since high levels of methylmalonyl-CoA are also excreted in the urine. The disease shows many similarities to propionic acidaemia. More.

Phenylketonuria (PKU) is an inherited disorder of phenylalanine metabolism, caused by a deficiency of the enzyme phenylalanine hydroxylase, which leads to mental retardation if untreated. The aim of dietary management is to prevent the accumulation of phenylalanine by means of a low phenylalanine diet. More

Propionic acidaemia is a rare genetic disease characterised by incomplete metabolism of certain amino acids and, to a lesser degree, fats and cholesterol. More

Sulphite Oxidase deficiency is a rare inherited disorder affecting sulphite metabolism resulting in severe neurological dysfunction, mental retardation and lens dislocation. A clinically mild form is treatable with diet. More.

There are several types of Tyrosinaemia caused by disorders of tyrosine metabolism, which are relatively rare. Tyrosinaemia type I is caused by a deficiency of fumarylacetoacetate hydroxylase resulting in severe liver and kidney failure and eventually death. More.

Urea Cycle Disorders (UCD) are a group of inherited conditions, characterised by enzyme deficiencies of the urea cycle. The result is waste nitrogen accumulating as ammonia and glutamine, both of which are neurotoxic and may cause severe encephalopathy. More.