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inborn error of metabolism

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child health

Overview page. Subjects: Medicine and Health.

Health services for children, usually school health services, sometimes an extension of maternal and child health services, sometimes both.

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clinical chemistry

Overview page. Subjects: Medicine and Health — Science and Mathematics.

A branch of applied biochemistry concerned with the nature and determination of chemical substances of interest in the investigation of diseases.

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cystinuria

Overview page. Subjects: Chemistry — Medicine and Health.

n. an inborn error of metabolism resulting in excessive excretion of the amino acid cystine in the urine due to a defect of reabsorption by the kidney tubules. It may lead to...

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endocrinology — history

Overview page. Subjects: Medicine and Health.

In 1855, Claude Bernard discovered that glucose was synthesized in the liver and secreted into the portal vein. He described this secretion as ‘internal’, to distinguish it from bile, the...

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genetic defect

Overview page. Subjects: Chemistry.

Any alteration in the genetic information carried in an individual organism, the effect of which is to produce a phenotype that is at a disadvantage in competing with a normal ...

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Guthrie test

Overview page. Subjects: Medicine and Health — Science and Mathematics.

A reliable test for the detection of phenylalanine in the urine, used to screen newborn infants for phenylketonuria. It was developed by the American microbiologist Robert Guthrie...

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homocystinuria

Overview page. Subjects: Medicine and Health.

n. an inborn error of metabolism, inherited as an autosomal recessive trait, caused by an enzyme deficiency resulting in an excess of homocysteine in the blood and the presence...

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McArdle disease

Overview page. Subjects: Medicine and Health.

An inborn error of metabolism in which a deficiency of the enzyme myophosphorylase prevents the breakdown of glycogen to lactate in exercising muscle. This results in fatigue, pain, and...

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metabolic block

Overview page. Subjects: Chemistry.

A nonfunctional reaction in a metabolic pathway, as a consequence of a defective (mutant) enzyme whose normal counterpart catalyzes the reaction.

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methylmalonic aciduria

Overview page. Subjects: Medicine and Health.

(methylmalonic acidaemia, aminoacidopathy) a defect of amino acid metabolism causing an excess of methylmalonic acid in the urine and blood. There are two types: one is an inborn error of...

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