Niemann-Pick disease type D

Niemann-Pick disease type D (NPD-D) is a rare, inherited metabolic disorder that primarily affects the body's ability to metabolize lipids, or fats. It is a subtype of Niemann-Pick disease, which is itself part of a larger group of diseases known as lysosomal storage diseases.

Etiology

NPD-D is caused by mutations in the NPC1 gene, which provides instructions for producing a protein that is essential for the normal function of lysosomes. The NPC1 protein plays a crucial role in the movement of cholesterol and other lipids within cells. Mutations in the NPC1 gene disrupt the function of this protein, leading to the accumulation of lipids within lysosomes.

Symptoms

The symptoms of NPD-D typically begin in childhood and may include ataxia (loss of muscle coordination), dystonia (involuntary muscle contractions), dysphagia (difficulty swallowing), and progressive loss of intellectual function (dementia).

Diagnosis

Diagnosis of NPD-D is based on clinical symptoms, biochemical tests showing lipid accumulation in cells, and genetic testing confirming mutations in the NPC1 gene.

Treatment

There is currently no cure for NPD-D. Treatment is supportive and aims to manage symptoms. This may include physical therapy for movement problems, medications to control seizures, and special education services for cognitive impairment.

Epidemiology

NPD-D is most common in individuals of Nova Scotia descent, due to a founder effect. However, it can occur in individuals of any ethnic background.

See also

• Niemann-Pick disease type C
• Niemann-Pick disease type A
• Niemann-Pick disease type B

References

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