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Summary
NIEMANN-PICK DISEASE TYPE A
257200
OMIM = Online Medalian Inheritance of Men
77292
11p15.4
  • no specific treatment
> 100 cases (all forms) Ashkenazic jewish 1:120
autosomal recessive
different phenotypes
symptoms
cherry-red spot on retinal macula
cirrhosis or fibrosis of liver
early death
failure to thrive
hepatomegaly (large liver)
interstitial pneumonitis
jaundice
neurological deterioration
onset, infancy
progressive neurologic defect
ptosis (drooping eyelid)
splenomegaly (large spleen)
xanthoma
laboratory finding
Acid sphingomyelinase0.005.00 % of normalfibroblasts
Sphingomyelin increasedtissue
Foam cells, bone marrow bone marrow
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994