Glossary

There is a lot of terminology related to Inherited Metabolic Disorders, some of which you may have never heard before. This glossary is here to make sense of the terms you may find throughout this website and in information about Inherited Metabolic Disorders.

Amino Acid
A building block of protein obtained from the diet.

Developmental Delay
A setback in development in any area such as language, physical skills, thinking etc.

Enzymes
Proteins that help speed up metabolism.

Gene
A portion of DNA that codes for a protein.

Glutaric Acid
A metabolite that is a produced by breaking down lysine.

Glycine
A common amino acid.

Homocysteine
An amino acid that accumulates in the condition known as Homocystinuria.

IMD
A common abbreviation for Inherited Metabolic Disorder.

Isoleucine
A common amino acid.

Isovaleric Acid
A metabolite that accumulates in the condition known as Isovaleric Acidaemia.

Leucine
A common amino acid.

Lysine
A common amino acid.

Metabolic
A term used to describe the changes that go on within living cells.

Metabolic Crisis
A clinical state where some compounds accumulate to unusually high levels and may harm the patient without treatment. Your specialist doctor will advise what symptoms to look out for.

Metabolite
A substance produced during metabolism.

Newborn Screening
Also known as the heel prick test or blood spot test.  A test for newborn babies to detect if they have one of nine rare but serious conditions.  There are currently six Inherited Metabolic Disorders on the UK Newborn Screening programme.

Phenylalanine
A common amino acid.

Pyridoxine
A co-factor (helper molecule) used by enzymes to assist in metabolism.

Rare Disease
A condition that affects less than 5 in 10,000 of the general population.  There are approximately 8,000 known rare diseases, which include Inherited Metabolic Disorders.

Screening Centre
A regional centre where samples are screened for the six Inherited Metabolic Conditions on the UK Newborn Screening programme.

Supplements
Products which may assist in the treatment of some Inherited Metabolic Disorders.

Tryptophan
A common amino acid.

Valine
A common amino acid.

3-Hydroxy-Glutaric Acid
A metabolite that accumulates in the condition known as Glutaric Aciduria.