gargoylism$30922$ - ορισμός. Τι είναι το gargoylism$30922$
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Τι (ποιος) είναι gargoylism$30922$ - ορισμός

GENETIC DISORDER THAT RESULTS IN THE BUILDUP OF GLYCOSAMINOGLYCANS (AKA GAGS, OR MUCOPOLYSACCHARIDES) DUE TO A DEFICIENCY OF ALPHA-L IDURONIDASE
Hurler's Syndrome; Mucopolysaccharidosis, type I; Hurler's syndrome; Hurler's disease; Hurler Syndrome; Mucopolysaccharidosis I; Hurler disease; Gargoylism; Lipochondrodystrophy; Hunter-Hurler disease; Hunter-Hurler syndrome; Mucopolysaccharidosis i; Mucopolysaccharidosis I H (Hurler); Hurler syndrome (MPS I); Pfaundler syndrome; Mucopolysaccharidosis Ih
  • Corneal clouding in a 30-year-old male with MPS VI. Hurler syndrome and other MPS disorders may also present with corneal clouding.

gargoylism         
¦ noun another term for Hurler's syndrome.
Hurler syndrome         
Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes. The inability to break down these molecules results in a wide variety of symptoms caused by damage to several different organ systems, including but not limited to the nervous system, skeletal system, eyes, and heart.
Hurler's syndrome         
['h?:l?z]
¦ noun Medicine a defect in metabolism arising from congenital absence of an enzyme, resulting in mental retardation, a protruding abdomen, and an abnormally large head.
Origin
1930s: named after the Austrian paediatrician Gertrud Hurler.

Βικιπαίδεια

Hurler syndrome

Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes. The inability to break down these molecules results in a wide variety of symptoms caused by damage to several different organ systems, including but not limited to the nervous system, skeletal system, eyes, and heart.

The underlying mechanism is a deficiency of alpha-L iduronidase, an enzyme responsible for breaking down GAGs.: 544  Without this enzyme, a buildup of dermatan sulfate and heparan sulfate occurs in the body. Symptoms appear during childhood, and early death usually occurs. Other, less severe forms of MPS Type I include Hurler-Scheie Syndrome (MPS-IHS) and Scheie Syndrome (MPS-IS).

Hurler syndrome is classified as a lysosomal storage disease. It is clinically related to Hunter syndrome (MPS II); however, Hunter syndrome is X-linked, while Hurler syndrome is autosomal recessive.