Medical Definition of Sphingomyelin lipidosis

1. A family of severe lysosomal storage diseases resulting in an accumulation of sphingomyelin and other phospholipids in the reticuloendothelial system. The best studied forms are due to deficiency of sphingomyelinase and it is more common in Ashkenazi Jews than other groups. Clinical signs include foam cells in the blood and marrow, hepatosplenomegaly and neurologic degeneration. Diagnosis is confirmed by enzyme assay on leukocytes or fibroblasts and specific mutations in the gene are now recognised. (29 Dec 1997)

Lexicographical Neighbors of Sphingomyelin Lipidosis

sphingids
sphingine
sphingofungin
sphingofungins
sphingoid
sphingoids
sphingol
sphingolipid
sphingolipid ceramide N-deacylase
sphingolipidoses
sphingolipidosis
sphingolipids
sphingolipodystrophy
sphingomyelin
sphingomyelin deacylase
sphingomyelin lipidosis (current term)
sphingomyelin phosphodiesterase
sphingomyelinase
sphingomyelinases
sphingomyelins
sphingosine
sphingosine CoA-independent transacetylase
sphingosine N-methyltransferase
sphingosines
sphinx
sphinx moth
sphinxes
sphinxlike
sphragide
sphragides

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