Treatable Intellectual Disability

Gaucher Disease Type III

BIOCHEMICAL DEFECT

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DIAGNOSIS

Gene
GBA (AR)

Diagnostic Test
Glucocerebrosidase Enzyme Activity (Lymphocytes)

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SIGNS & SYMPTOMS

Neurological
Dementia, epilepsy, supranuclear gaze palsy

Non-Neurological
Hepato(-spleno)megaly

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THERAPY

Treatment
Haematopoietic Stemcell Transplantation

Level of Evidence
4-5

Clinical Practice
Individual Basis

Treatment Effect
Stabilizes clinical deterioration; improves systemic manifestations



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Gaucher Disease Type III

Gaucher disease is a lysosomal storage disorder caused by a deficiency in glucocerebrosidase. Gaucher disease type 3 (also known as the juvenile or subacute neurological form) is characterised by hepatosplenomegaly, bone fractures and various degrees of neurologic involvement. Supranuclear gaze palsy may represent an early sign of neurologic involvement followed by progressive mental deterioration, and neurologic (extrapyramidal) deficits. Some patients develop severe myclonic epilepsy.

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