Niemann–Pick disease, SMPD1-associated

Niemann–Pick disease, SMPD1-associated is a rare, inherited disorder that primarily affects the body's ability to metabolize fat (lipids) within cells. These lipid metabolism disorders are characterized by the accumulation of harmful amounts of lipids in the brain, liver, spleen, and other organs.

Symptoms

The symptoms of Niemann–Pick disease, SMPD1-associated, can vary greatly from person to person. Some people may have neurological problems, while others may have none. Symptoms can include ataxia, dementia, dysarthria, and dysphagia.

Causes

Niemann–Pick disease, SMPD1-associated, is caused by mutations in the SMPD1 gene. This gene provides instructions for producing an enzyme called acid sphingomyelinase, which is found in lysosomes. Lysosomes are compartments within cells that break down and recycle different types of molecules. Acid sphingomyelinase is responsible for the conversion of a fat (lipid) called sphingomyelin into another lipid called ceramide. If the SMPD1 gene is mutated, the enzyme's activity can be reduced or eliminated, disrupting this conversion process and leading to the accumulation of sphingomyelin within cells.

Diagnosis

Diagnosis of Niemann–Pick disease, SMPD1-associated, is based on the clinical symptoms, physical examination findings, and confirmed by molecular genetic testing. The diagnosis can be confirmed by finding a reduced or absent acid sphingomyelinase activity in white blood cells or cultured skin fibroblasts.

Treatment

There is currently no cure for Niemann–Pick disease, SMPD1-associated. 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
• Sphingolipid
• SMPD1 gene

References

Niemann–Pick disease, SMPD1-associated Resources
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