Sphingomyelinase deficiency

All types of Niemann-Pick are autosomal recessive. This means that both parents are carriers -- they each carry one copy of the abnormal gene without having any signs of the disease themselves.

When both parents are carriers, there is a 25% chance that their child will have the disease and a 50% chance that a child will be a carrier.

Carrier detection testing is only possible if the genetic defect is identified. The defects involved in Types A and B have been well-studied. DNA tests for these forms of Niemann-Pick are available.

Genetic defects have been identified in the DNA of many patients with Type C. It may be possible to diagnose people who carry the abnormal gene.

A few centers offer tests to diagnose a baby still in the womb.

NP-C Guidelines Working Group, Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab. 2009;98:152-165.

Stanley CA, Bennett MJ. Defects of metabolism in lipids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 86.

Images

Niemann-Pick foamy cells

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Niemann Treatment

Review Date: 11/12/2010
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)