Diagnosis of Niemann-Pick disease types A and B
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Diagnostic test for Niemann-Pick types A and B. Not recommended for carrier detection.
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Niemann-Pick disease (NPD) types A and B result from a deficiency of acid sphingomyelinase, which causes accumulation of sphingomyelin in the organs and tissues of affected individuals. Classification of individuals as having type A or type B is based on age of onset as well as the severity of symptoms. NPD types A and B are inherited in an autosomal recessive manner. Although there is a higher frequency of type A among the Ashkenazi Jewish population, both types are pan-ethnic.
NPD type A is a severe neurodegenerative disorder of infancy characterized by failure to thrive, hepatosplenomegaly, interstitial lung disease, and developmental delays typically leading to death by 2 to 3 years of age. All individuals with NPD type A will eventually develop a cherry-red maculae. Bone marrow biopsy will reveal histochemically characteristic Niemann-Pick foam cells.
NPD type B is characterized by later onset, milder manifestations, and a much more variable clinical presentation. Most patients are diagnosed in childhood when liver or spleen enlargement is detected during a routine physical examination. Patients may also be identified when routine blood work detects anemia and/or thrombocytopenia. Common symptoms include hyperlipidemia and pulmonary involvement. In some cases, severe liver disease is present. Generally, nervous system function and intelligence are normal. Most individuals survive into adulthood.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
> or =2.85 nmol/min/mg protein
This enzyme is deficient in Niemann-Pick disease types A and B.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Interfering factors include:
-Lack of viable cells or bacterial contamination
-Failure to transport tissue in an appropriate media
-Excessive transport time
-Exposure of the specimen to temperature extremes (freezing or >30 degrees C)
This test is not useful for Niemann-Pick type C detection (see NIEM / Niemann-Pick Type C Detection, Fibroblasts).
Level of residual enzyme activity is not a reliable indicator or predictor of severity.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Gal AE, Brady RO, Hibbert SR, Pentchev PG: A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease. N Engl J Med 1975;293:632-636
2. McGovern MM, Schuchman EH: Acid Sphingomyelinase Deficiency. In GeneReviews. Edited by RA Pagon, MP Adam, TD Bird, et al. Last update June 25, 2009. Available from URL: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=npab
3. Schuchman EH: The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. Int J Clin Pharmacol Ther 2009;47 Suppl 1:S48-57
4. Hollack CE, de Sonnaville ES, Cassiman D, et al: Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients. Mol Gen Metab 2012;107:526-533