Niemann-Pick Disease Type A

Niemann-Pick Disease Type A is a severe inherited lysosomal storage disorder caused by deficiency of the enzyme acid sphingomyelinase. This enzyme is responsible for breaking down a fatty substance called sphingomyelin. When the enzyme is deficient, sphingomyelin accumulates in cells throughout the body, particularly in the liver, spleen, lungs, bone marrow, and brain.

Type A is the infantile, neuronopathic form—the most severe form of Niemann-Pick disease caused by SMPD1 mutations. Symptoms begin within the first few months of life with feeding difficulties, failure to thrive, and an enlarged liver and spleen. The disease progresses rapidly with severe neurological deterioration.

Characteristic features include a distinctive cherry-red spot in the retina (visible on eye examination), progressive loss of motor and cognitive skills, increasing muscle weakness and tone abnormalities, lung disease, and profound developmental delay. Most children with Type A do not survive beyond 2-3 years of age due to the severe neurological involvement.

Niemann-Pick Disease Type A is caused by mutations in the SMPD1 gene and is inherited in an autosomal recessive pattern. It is particularly common among individuals of Ashkenazi Jewish descent, with a carrier frequency of about 1 in 90. Type B, caused by mutations in the same gene, has little or no neurological involvement and a much better prognosis. Genetic testing can distinguish carriers and affected individuals.

NutraHacker examines the following gene related to Niemann-Pick Disease Type A:

• SMPD1

For more information about your own genetic profile as related to Niemann-Pick Disease Type A, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.