Conditions

Use this site to find out more about the conditions you are researching: you’ll find an information centre, events summary, forums and key links.

Healthcare Professionals can search for articles, abstracts, protocols and much more.

Patients, Parents and Carers can search for articles, podcasts, videos, frequently asked questions and examples of how other people have coped.

If you can’t find what you are looking for, why not contact us or ask our experts. We are always willing to help. We could even publish an article you may want to share with others.

• Cows’ Milk Allergy (CMA)

  Cows’ Milk Allergy (CMA), also known as Cows’ Milk Protein Allergy (CMPA) is an adverse reaction to the protein in cow's milk that involves the immune system. This condition can affect various body systems and symptoms can include vomiting, diarrhoea, eczema, atopic dermatitis and asthma.

• Crohns

  Dalziel first described Crohn’s disease in Scotland in isolated cases in 1913. However, in 1932, Crohn and colleagues named the disease Regional Ileitis. This was later changed to Regional Enteritis when, after further work, it was discovered the disease affected other areas of the gut.

• Epilepsy

  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.

• Galactosaemia

  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.

• Glutaric Aciduria Type I

  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.

• Homocystinuria

  Classical Homocystinuria is an inherited disorder caused by Cystathione β-synthetase deficiency resulting in mental retardation, eye problems, and risk of thrombosis. The aim of dietary management is to prevent the accumulation of methionine by means of a low methionine diet (in the UK this is achieved with the use of methionine exchanges).

• Isovaleric Acidaemia and Leucin Metabolism

  Isovaleric Acidaemia (IVA) is a rare inherited disorder affecting leucine metabolism caused by a deficiency of isovaleryl-CoA dehydrogenase

• Maple Syrup Urine Disease (MSUD)

  Maple Syrup Urine Disease (MSUD) is a rare inherited disorder affecting the metabolism of leucine, isoleucine and valine.

• Methylmalonic Acidaemia and Propionic Acidaemia

  Methylmalonic Acidaemia (MMA) and Propionic Acidaemia (PPA) are disorders of propionate metabolism.

• Phenylketonuria (PKU)

  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.

• Sulphite Oxidase Deficiency

  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.

• Tyrosinaemia

  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.

• Urea Cycle Disorders

  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.