Treatable Intellectual Disability

Hurler Syndrome (MPS I)

BIOCHEMICAL DEFECT

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DIAGNOSIS

Gene
IDUA (AR)

Diagnostic Test
Urine Glycosaminoglycans

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SIGNS & SYMPTOMS

Neurological
Dementia, sensorineural hearing loss, White matter abnormalities (MRIscan)

Non-Neurological
Dysmorphisms, corneal clouding, valvular thickening and cardiomyopathy, diarrhea, hepato(-spleno)megaly, dysostoses, very thick hair

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THERAPY

Treatment
Haematopoietic Stemcell Transplantation

Level of Evidence
1c

Clinical Practice
Standard of Care

Treatment Effect
Stabilizes clinical deterioration; improves systemic manifestations



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Hurler Syndrome (MPS I)

Hurler Syndrome (MPS I)

is the most severe form of mucopolysaccharidosis type 1(MPS1; see this term), a rare lysosomal storage disease, characterized by facial dysmorphisms, skeletal deformities, cardiac and ocular involvement as well as delay in motor and intellectual development. The prevalence of MPS I has been estimated at 1/100,000, with Hurler syndrome accounting for 57% of cases or a prevalence of approximately 1/175,000. (Source: Orphanet)

No information available from this source.

This disease is not (yet) listed on their website.