Jansky-Bielschowsky disease

Jansky-Bielschowsky disease
Classification and external resources
ICD-10	E75.4
ICD-9	330.1
OMIM	204500
DiseasesDB	31535
eMedicine	/
MeSH	[1]

Jansky-Bielschowsky disease is a late-infantile form of neuronal ceroid lipofuscinosis associated with a deficiency in tripeptidyl peptidase I.^[1]

Eponym

It is named for Jan Janský and Max Bielschowsky.^[2]

References

1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 204500
2. ^ synd/866 at Who Named It?

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v • d • e (LSD) Inborn error of lipid metabolism: lipid storage disorders (E75, 272.7-272.8) Sphingolipidoses (to ceramide) From ganglioside (gangliosidoses) Ganglioside: GM1 gangliosidoses · GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease, AB variant) From globoside Globotriaosylceramide: Fabry's disease From sphingomyelin Sphingomyelin: phospholipid: Niemann-Pick disease (SMPD1-associated, type C) Glucocerebroside: Gaucher's disease From sulfatide (sulfatidoses, leukodystrophy) Sulfatide: Metachromatic leukodystrophy · Multiple sulfatase deficiency Galactocerebroside: Krabbe disease To sphingosine Ceramide: Farber disease NCL Infantile · Jansky-Bielschowsky disease · Batten disease Other Cerebrotendineous xanthomatosis · Cholesteryl ester storage disease (Wolman disease) · Sea-blue histiocyte syndrome see also enzymes, sphingolipids

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