ceroid lipofuscinosis—neuronal—10

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ceroid lipofuscinosis—neuronal—102016-11-25T07:48:01+00:00

ceroid lipofuscinosis—neuronal—10

METABOLISM, NEUROLOGY

Definition A form (OMIM:610127) of neuronal ceroid lipofuscinosis* with onset at birth or early childhood.

*Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterised by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. 

Molecular pathology Defects of CTSD, which encodes an enzyme of the peptidase C1 family, cause ceroid lipofuscinosis—neuronal—10.  

Synonyms Ceroid lipofuscinosis—neuronal—cathepsin D-deficient, neuronal ceroid lipofuscinosis—congenital (included), neuronal ceroid lipofuscinosis due to cathepsin D deficiency

References http://www.uniprot.org/uniprot/P07339

http://www.omim.org/entry/610127

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