Mucopolysaccharidosis Health Dictionary

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Mucopolysaccharidosis: From 2 Different Sources

A group of rare inherited metabolic disorders (see metabolism, inborn errors of) of which Hurler’s syndrome is the best known. All mucopolysaccharidoses are genetic disorders in which there is an abnormality of a specific enzyme. This leads to the accumulation within body cells of substances called mucopolysaccharides.

Features may include abnormalities of the skeleton and/or the central nervous system, with learning difficulties and, in some cases, a characteristic facial appearance. There may also be clouding of the cornea, liver enlargement, and joint stiffness. No specific treatment is available. However, a bone marrow transplant may successfully be used to treat Hurler’s syndrome.

Mild forms of mucopolysaccharidoses allow a child to have a relatively normal life.

More severe types usually cause death during childhood or adolescence.

Health Source: BMA Medical Dictionary
Author: The British Medical Association
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 *Hunter’s syndrome and *Hurler’s syndrome.
Health Source: Oxford | Concise Colour Medical Dictionary
Author: Jonathan Law, Elizabeth Martin

Metabolic Disorders

A collection of disorders in which some part of the body’s internal chemistry (see METABOLISM; CATABOLISM) is disrupted. Some of these disorders arise from inherited de?ciencies in which a speci?c ENZYME is absent or abnormal, or does not function properly. Other metabolic disorders occur because of malfunctions in the endocrine system (see ENDOCRINE GLANDS). There may be over- or underproduction of a hormone involved in the control of metabolic activities: a prime example is DIABETES MELLITUS – a disorder of sugar metabolism; others include CUSHING’S SYNDROME; hypothyroidism and hyperthyroidism (see THYROID GLAND, DISEASES OF); and insulinoma (an insulin-producing tumour of the pancreas). The bones can be affected by metabolic disorders such as osteoporosis, osteomalacia (rickets) and Paget’s disease (see under BONE, DISORDERS OF). PORPHYRIAS, HYPERLIPIDAEMIA, HYPERCALCAEMIA and gout are other examples of disordered metabolism.

There are also more than 200 identi?ed disorders described as inborn errors of metabolism. Some cause few problems; others are serious threats to an individual’s life. Individual disorders are, fortunately, rare – probably one child in 10,000 or 100,000; overall these inborn errors affect around one child in 1,000. Examples include GALACTOSAEMIA, PHENYLKETONURIA, porphyrias, TAY SACHS DISEASE and varieties of mucopolysaccharidosis, HOMOCYSTINURIA and hereditary fructose (a type of sugar) intolerance.... metabolic disorders

Hunter’s Syndrome

a hereditary disorder caused by deficiency of an enzyme that results in the accumulation of protein–carbohydrate complexes and fats in the cells of the body (see mucopolysaccharidosis). This leads to learning disability, enlargement of the liver and spleen, and prominent coarse facial features (gargoylism). The disease is *sex-linked, being restricted to males, although females can be *carriers. Medical name: mucopolysaccharidosis type II. [C. H. Hunter (1872–1955), US physician]... hunter’s syndrome

Hurler’s Syndrome

a hereditary disorder caused by deficiency of an enzyme that results in the accumulation of protein–carbohydrate complexes and fats in the cells of the body (see mucopolysaccharidosis). This leads to severe learning disabilities, enlargement of the liver and spleen, heart defects, deformities of the bones, and coarsening and thickening of facial features (gargoylism). A bone marrow transplant offers the only hope of treatment. Medical name: mucopolysaccharidosis type I. [G. Hurler (1889–1965), Austrian paediatrician]... hurler’s syndrome

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