Beta-hexosaminidase-beta-subunit deficiency
= Beta-hexosaminidase-beta-subunit deficiency =
Beta-hexosaminidase-beta-subunit deficiency, also known as Sandhoff disease, is a rare, inherited lysosomal storage disorder. It is characterized by the progressive deterioration of the central nervous system due to the accumulation of GM2 gangliosides in the nerve cells. This condition is caused by a deficiency in the beta subunit of the enzyme beta-hexosaminidase, which is crucial for the breakdown of certain glycolipids.
Pathophysiology[edit | edit source]
The disease results from mutations in the HEXB gene, which encodes the beta subunit of the enzyme beta-hexosaminidase. This enzyme is responsible for the degradation of GM2 gangliosides and other molecules. In the absence of functional beta-hexosaminidase, GM2 gangliosides accumulate, particularly in the nerve cells, leading to neurodegeneration.
Clinical Features[edit | edit source]
Patients with beta-hexosaminidase-beta-subunit deficiency typically present with symptoms in infancy or early childhood. These symptoms may include:
- Developmental delay
- Muscle weakness
- Loss of motor skills
- Seizures
- Vision and hearing loss
- Cherry-red spot on the retina
Diagnosis[edit | edit source]
Diagnosis is based on clinical evaluation, biochemical testing, and genetic testing. Biochemical tests reveal reduced or absent activity of beta-hexosaminidase A and B enzymes. Genetic testing can confirm mutations in the HEXB gene.
Treatment[edit | edit source]
Currently, there is no cure for beta-hexosaminidase-beta-subunit deficiency. Treatment is supportive and focuses on managing symptoms and improving quality of life. This may include:
- Anticonvulsants for seizures
- Physical therapy
- Nutritional support
Prognosis[edit | edit source]
The prognosis for individuals with beta-hexosaminidase-beta-subunit deficiency is poor, with most affected children not surviving beyond early childhood. The disease progresses rapidly, leading to severe neurological impairment.
Research[edit | edit source]
Research is ongoing to find effective treatments for beta-hexosaminidase-beta-subunit deficiency. Approaches being explored include gene therapy, enzyme replacement therapy, and substrate reduction therapy.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Beta-hexosaminidase-beta-subunit deficiency is a rare disease.
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Contributors: Prab R. Tumpati, MD
