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Sulfatidosis is a rare, inherited metabolic disorder characterized by the accumulation of sulfatides in cells, including nerve cells. There are two forms of the disorder, which are distinguished by their symptoms and genetic cause. The two forms are metachromatic leukodystrophy and multiple sulfatidosis.

Metachromatic Leukodystrophy

Metachromatic leukodystrophy (MLD) is characterized by the accumulation of sulfatides in cells, which causes progressive damage to cells, particularly cells in the nervous system. Symptoms of MLD can include muscle wasting and weakness, muscle rigidity, developmental delays, progressive loss of vision leading to blindness, convulsions, impaired swallowing, paralysis, and dementia. The disorder is usually fatal within a few years after symptoms appear.

Multiple Sulfatidosis

Multiple sulfatidosis is a disorder characterized by the accumulation of multiple types of sulfatides, leading to cell damage. Symptoms can include developmental delay, coarse facial features, short stature, bone abnormalities, and vision and hearing problems.

Causes

Sulfatidosis is caused by mutations in the ARSA gene (in MLD) or the SUMF1 gene (in multiple sulfatidosis). These genes provide instructions for producing enzymes that break down sulfatides. When these genes are mutated, the enzymes are deficient or absent, leading to the accumulation of sulfatides in cells.

Diagnosis

Diagnosis of sulfatidosis is based on clinical examination, genetic testing, and biochemical testing to measure the levels of sulfatides in the body.

Treatment

There is currently no cure for sulfatidosis. Treatment is supportive and based on the symptoms in each individual. This can include physical therapy, medication for seizures, and other supportive treatments.

See also

• Lysosomal storage disease
• Leukodystrophy
• Genetic disorder

References

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