One of the most common food allergies in infants and young children, CMA also known as Cow’s Milk Protein Allergy is an adverse reaction to one or more milk proteins. Learn more about types, symptoms and management.
There are a number of disorders affecting the metabolism of the amino acid leucine (leu). The focus of this page is on the cause, prevalence and management of isovaleric acidaemia.
This rare organic acid disorder is the result of a genetic, autosomal, recessive defect, leading to a shortage of the enzyme glutaryl-CoA dehydrogenase. Learn more about Glutaric Aciduria Type 1 and it's management.
A metabolic disorder caused by a lack of the Fumarylacetoacetate hydrolase enzyme needed to metabolise tyrosine. Find out what symptoms Tyrosinaemia produces and the different types of this disorder.
This group of inherited metabolic disorders are characterised by the accumulation of methylmalonic acid. Learn about how Organic Acidaemias are diagnosed, how common they are and what treatment involves.
Caused by a deficiency of the cystathionine beta-synthase enzyme, Homocystinuria can be split into two main types: Pyridoxine-responsive HCU and Pyridoxine- non-responsive HCU. Find out how the condition is diagnosed and how dietary management works.
This group of metabolic diseases, are caused by the deficiency of one of the six enzymes in the urea cycle. Learn more about these conditions, what caused them and how they can be managed.
Characterised by a deficiency of the branched chain 2‐ketoacid dehydrogenase (BCKD) complex, MSUD is a rare metabolic disorder. Find out about how the condition is inherited and managed from infancy to adulthood.