Hurler syndrome

Hurler syndrome

Hurler syndrome is a rare, inherited disorder in which a hereditary factor, or gene, is defective. The gene affected is one that controls production of an enzyme, called alpha-L-iduronidase.

Hurler syndrome
Definition
Hurler syndrome is a rare, inherited disease of metabolism in which a person cannot break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides).

Hurler syndrome
Alternate Names : Alpha-L-iduronate deficiency, Mucopolysaccharidosis type I, MPS I H
Definition ...

Hurler syndrome is a type of mucopolysaccharidosis called MPS I. Hurler syndrome is the most severe type. It is categorized as MPS I H.
The other subtypes of MPS I are:
MPS I H-S (Hurler-Scheie syndrome)
MPS I S (Scheie syndrome) ...

Hurler syndrome is one of a number of related rare genetic mucopolysaccharide disorders, the most common being Hunter syndrome.

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.

MPS I H (Hurler syndrome)
MPS II, Hunter syndrome
MPS IV Morquio syndrome
MPS III (Sanfilippo syndrome) ...

See also Hurler syndrome and Tay-Sachs disease.
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There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.

These are: Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome in decreasing order of clinical severity.

The symptoms of Sly Syndrome are similar to those of Hurler Syndrome (MPS I) and the other Mucopolysaccharidoses.

Hurler syndrome
Kartagener syndrome
Leopard syndrome (multiple lentigines)
Mohr syndrome
Morquio syndrome
Multiple lentigines syndrome
Multiple synostosis syndrome
Osteogenesis imperfecta
Otosclerosis
Robinson type ectodermal dysplasia ...

The most severe form of MPS I is often called Hurler syndrome (or MPS IH). It is named for the physician, Gertrud Hurler, who first described the disorder in 1919.

This disorder was once divided into three separate syndromes, Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe.

Mucopolysaccharidosis type I Hurler syndrome ... sleep apnea
Multiple pterygium syndrome ... apnea
P
Periodic limb movements in sleep ... problem sleepiness
Pierre Robin's sequence ... sleep disturbance, apnea ...

Benign familial macrocephaly (family tendency toward large head size)
Canavan disease
Hurler syndrome
Hydrocephalus (congenital, post-traumatic, or obstructive)
Intracranial bleeding
Morquio syndrome ...

Adrenal leukodystrophy (ALD)
Gaucher disease
Hurler syndrome
Mucopolysaccharidoses (MPS) ...

Metabolic disease: Metabolic diseases that enlarge the spleen include Niemann-Pick disease, Gaucher's disease, and Hurler syndrome.
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For example, children with a form of mucopolysaccharidosis called Hurler syndrome often die before age 10 from obstructive airway disease, respiratory infections, or cardiac complications.

Sleep apnea can seriously affect a person's health, behavior, and ability to learn. It is more common in people who have Down syndrome, achondroplasia, Hunter syndrome, Hurler syndrome, Sanfilippo syndrome, spina bifida, ...

See also: Symptom, Deficiency, Mucopolysaccharides, Scheie syndrome, Hunter syndrome