Scheie's syndrome

Scheie's syndrome

also called  Mucopolysaccharidosis I S , or  Mps I S 

      uncommon hereditary metabolic disease characterized by clawing of the hands, corneal clouding, incompetence of the aortic valve of the heart, and painful nerve compression in the wrist (carpal tunnel syndrome). The disease was described by Harold Scheie of the United States in 1962 and is a mild variant of Hurler's syndrome (MPS I H), a disorder associated with subnormal intelligence and dwarfism. Persons with Scheie's syndrome, in contrast, usually attain normal height and intelligence and can expect a normal life span, rare in Hurler's disease. Both syndromes are caused by a recessively inherited defect in the enzyme alpha-L-iduronidase, which is important in the development of connective tissues. A related condition is Hurler-Scheie syndrome (MPS I H S), which causes dwarfism, progressive blindness, deafness, and heart failure.

* * *


Universalium. 2010.

Игры ⚽ Нужен реферат?

Look at other dictionaries:

  • Scheie operation syndrome — (sha) [Harold Glendon Scheie, American ophthalmologist, 1909–1990] see under operation and syndrome …   Medical dictionary

  • Scheie syndrome — shī n an autosomal recessive mucopolysaccharidosis similar to Hurler s syndrome but less severe that is characterized by clouding of the cornea, slight deformity of the extremities, and disease of the aorta but not by mental retardation or early… …   Medical dictionary

  • Scheie syndrome — (also known as MPS V) ) is less severe version of Hurler s disease. It is a condition characterized by corneal clouding, facial dysmorphism, and normal lifespan [1] but unlike Hurler s, disease has normal intellect and .[2] See also Sanfilippo… …   Wikipedia

  • Syndrome de Hurler-Scheie-Hurler/Scheie — Syndrome de Hurler Syndrome de Hurler Autre nom Mucopolysaccharidose de type 1 Référence MIM …   Wikipédia en Français

  • Syndrome, Hurler — An inherited error of metabolism in which there is deficiency of the enzyme alpha L iduronidase which normally breaks down molecules called mucopolysaccharides. Without the activity of this enzyme, there is an abnormal accumulation of… …   Medical dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Scheie syndrome — Mucopolysaccharidosis (lysosomal disease) in which there is a defect in a L iduronidase. Fibroblasts from Scheie syndrome patients do not cross correct fibroblasts from Hurler&’s disease, although the two conditions are clinically distinct …   Dictionary of molecular biology

  • Scheie — Harold G., U.S. ophthalmologist, *1909. See S. syndrome …   Medical dictionary

  • síndrome de Scheie — Eng. Scheie s syndrome Mucopolisacaridosis que se transmite de forma autosómica recesiva caracterizada por inteligencia normal, cara ensanchada, manos cortas, uñas deformadas, sordera relativa y posible cardiopatía. A nivel ocular presentan… …   Diccionario de oftalmología

  • Hurler syndrome — An inherited error of metabolism in which there is deficiency of the enzyme alpha L iduronidase which normally breaks down molecules called mucopolysaccharides. Without the activity of this enzyme, there is an abnormal accumulation of… …   Medical dictionary

Share the article and excerpts

Direct link
https://universalium.en-academic.com/286961/Scheie%27s_syndrome Do a right-click on the link above
and select “Copy Link”