Jansky-Bielschowsky disease

From Wikipedia, the free encyclopedia

Jansky-Bielschowsky disease Classification and external resources
ICD-10	E75.4
ICD-9	330.1
OMIM	204500
DiseasesDB	31535
MeSH	D009472

Jansky-Bielschowsky disease is a form of neuronal ceroid lipofuscinosis associated with a deficiency in tripeptidyl peptidase I.

[edit] Eponym

It is named for Jan Janský and Max Bielschowsky.^[1]

[edit] References

v • d • e Inborn error of lipid metabolism - Lysosomal storage diseases - lipid storage disorders (E75, 272.7-272.8, 330.0-330.1) Sphingolipidoses Gangliosidoses: GM1 gangliosidoses, GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease, AB variant) Fabry's disease - Gaucher's disease sulfated: Leukodystrophy (Metachromatic leukodystrophy, Krabbe disease) ceramide: Farber disease phospholipid: Niemann-Pick disease Neuronal ceroid lipofuscinosis Infantile - Jansky-Bielschowsky disease - Batten disease Other Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease) see also glycolipid metabolism enzymes