Jansky-Bielschowsky disease
Encyclopedia
Jansky-Bielschowsky disease is a late-infantile form of neuronal ceroid lipofuscinosis
associated with a deficiency in tripeptidyl peptidase I
.
Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinoses is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumulation of lipopigments in the body's tissues. These lipopigments are made up of fats and proteins...
associated with a deficiency in tripeptidyl peptidase I
Tripeptidyl peptidase I
Tripeptidyl-peptidase 1 is an enzyme that in humans is encoded by the TPP1 gene.-Molecular biology:-Clinical:Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the...
.