Treatable Intellectual Disability

α-Mannosidosis

BIOCHEMICAL DEFICIENCY

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DIAGNOSIS

Gene
MAN2B1 (AR)

Diagnostic Test
Urine Oligosaccharides

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SIGNS & SYMPTOMS

Neurological
Dementia, psychosis, behavioural disturbances, sensorineural hearing loss

Non-Neurological
Cataract, hepato(-spleno)megaly, dysostoses, various immunologic conditions

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THERAPY

Treatment
Haematopoietic Stemcell Transplantation

Level of Evidence
4-5

Clinical Practice
Individual Basis

Treatment Effect
Stabilizes clinical deterioration



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α-Mannosidosis

is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. It occurs in approximately 1 in 500,000 live births. Affected infants often appear normal at birth but their condition worsens progressively. (Source: Orphanet)

No information available from this source.

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