LOINC display name : Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel (WBC);
LOINC long common name : Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel - Leukocytes;
LOINC short name : PPT1 TPP1 Pnl WBC;
LOINC description : This panel is used to help differentiate between forms of neuronal ceroid lipufuscinoses
(CLNs), which are progressive, neurodegenerative lysosomal storage diseases. CLN1
and CLN2 are caused by mutations in the PPT1 gene, which encodes palmitoyl protein
thioesterase 1, and TPP1, which encodes tripeptidyl peptidase 1, respectively. Both
are associated with seizures, dementia, and vision loss. [UniProt: O14773][UniProt:
P50897];