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Term Definition
Metabolic Acidosis

Decreased pH and bicarbonate concentration of the body fluids caused either by the accumulation of excess acids stronger than carbonic acid or by abnormal losses of bicarbonate from the body. A metabolic derangement of acid-base balance where the blood pH is abnormally low.

Metabolic Pathway

The sequence by which the chemical changes in living cells provide energy for vital processes in the body.


Any substance produced by metabolic action or necessary for metabolic process. In UCDs and PA, certain metabolites can reach toxic levels, others can be abnormally low.


Amino acid found in most proteins and essential for nutrition. Restricted amino acid for patients with propionic acidemia.

Mitochondrial Disorder

Mitochondria, located in the cells, convert oxygen and food into energy. A mitochondrial disorder occurs when this conversion doesn't work properly and can damage or kill blood cells, resulting in systems shutting down. Primary onset in childhood, also sometimes in adults.

MMR (measles, mumps, rubella) vaccine

A vaccination that protects against the measles, mumps and rubella. It is often given to children before they begin school.


A combination of tiny, invisible particles in the body that are bonded together.


When different cells in the same organ or tissue have different genetic make up. For example, some cells carrying a mutation in the OTC gene, while other cells do not.

MRI (magnetic resonance imaging)

A diagnostic radiology technique that uses magnetism, radiowaves, and a computer to produce images of body structures.


An unusual change in genetic material occurring spontaneously or by induction, which changes the original expression (function or purpose) of the gene.

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