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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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Morquio-Brailsford disease

Overview page. Subjects: Medicine and Health — Chemistry.

A defect of mucopolysaccharide metabolism (see inborn error of metabolism) that causes dwarfism with a kyphosis, a short neck, knock-knee, and an angulated sternum in affected children....

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mucopolysaccharidosis

Overview page. Subjects: Medicine and Health.

n. any one of a group of several rare genetic diseases that are inborn errors of metabolism in which the storage of complex carbohydrates is disordered. The two most common are...

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phenylketonuria

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

(PKU)

A disorder in which phenylalanine hydroxylase (EC 1.14.16.1, 452 aa), the enzyme that converts phenylalanine into tyrosine, is congenitally deficient. The accumulation of...

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porphyria

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

A rare hereditary disease in which there is abnormal metabolism of the blood pigment haemoglobin. Porphyrins are excreted in the urine, which becomes dark; other symptoms include mental...

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