Sandhoff

Sandhoff disease is a rare, genetic, metabolic disorder characterized by the absence of certain enzymes needed for the breakdown of fats in the body. It is a type of lysosomal storage disease and is also classified as a sphingolipidosis because it affects the metabolism of sphingolipids. Sandhoff disease is named after the German neurologist Konrad Sandhoff, who first described the condition in 1963.

Symptoms

The symptoms of Sandhoff disease typically begin in infancy and may include motor weakness, startle reaction to sound, early blindness, progressive mental and motor deterioration, macrocephaly (an abnormally enlarged head), and frequent respiratory infections. There is currently no specific treatment for Sandhoff disease. Management of the disease is symptomatic and supportive.

Causes

Sandhoff disease is caused by mutations in the HEXA and HEXB genes. These genes provide instructions for making the beta subunits of the enzymes beta-hexosaminidase A and beta-hexosaminidase B. Mutations in these genes disrupt the activity of these enzymes, preventing the breakdown of certain fats and leading to their accumulation in cells and tissues.

Diagnosis

Diagnosis of Sandhoff disease is based on the clinical symptoms, biochemical studies showing deficient hexosaminidase A and B activity, and molecular genetic testing confirming mutations in the HEXB gene.

Treatment

There is currently no cure for Sandhoff disease. Treatment is symptomatic and supportive, and may include physical therapy to manage muscle weakness and stiffness, and medications to manage seizures and other symptoms.

Prognosis

The prognosis for individuals with Sandhoff disease is generally poor, with most individuals not surviving past early childhood. However, the course of the disease can vary, and some individuals with less severe forms of the disease may live into adolescence or early adulthood.

See also

• Tay-Sachs disease
• GM2 gangliosidoses
• Lysosomal storage disease
• Sphingolipidosis

References

Sandhoff Resources
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