Niemann-Pick Disease Type A Selena Brown

The gene causing Niemann-Pick Type A is SMPD1, found in lysosomes.

A defect in the protein sphingomyelin phosphodiesterase causes Niemann-Pick disease Type A.

Children with Niemann pick disease Type A usually don't live past childhood. Conditions are an expanded liver and spleen at 3 months of age. Weight and growth are stunted. At 1 year, cognition and movement are impaired. General symptoms are stomach swelling in 3-6 months, a cherry red spot in the eye, loss of motor skills, breathing issues, and feeding problems.

The Ashkenazi Jewish population are the most affected race, along with infants or young children.

1,200 worldwide cases and just over 100 cases in the U.S.

The disease is autosomal and recessive.

Albert Niemann and Ludwig Pick discovered the disease in 1914. Niemann gave a report on a child having an enlarged spleen and liver while Pick analyzed tissue from children showing the symptoms of the disease to establish it as the Niemann-Pick disease.

The disease is found by blood testing through the ASM activity in white blood cells and identifying carriers by DNA testing. Currently, there is no treatment. The prognosis for Niemann-Pick type A is death at the age of 2-4.

Finding the gene that causes Niemann-Pick in 1997 helped research in further treatments, and gene therapy has shown effectiveness despite there being no treatments.

"Niemann-Pick Disease." Genetics Home Reference, U.S National Library of Medicine, 31 Jan. 2017, Accessed 5 Feb. 2017.

"Niemann-Pick Disease." MedlinePlus, U.S. National Library of Medicine, 24 Nov. 2014, Accessed 5 Feb. 2017.

"Niemann-Pick Type a." Niemann-Pick Disease, niemann-pick-type-a-b/. Accessed 5 Feb. 2017. Davidson, Cristin D., and Steven U. Walkley. "Niemann-Pick Type C

Disease—Pathophysiology and Future Perspectives for Treatment." Touchneurology, 5 Feb. 2017.

"Niemann-Pick Disease." OMICSonline, OMICSinternational, Accessed 5 Feb. 2017.

Images: "Niemann-Pick Disease."


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