Palmitoyl-protein thioesterase 1
Neuronal Ceroid Lipofuscinosis 1 (CLN1): Palmitoyl-Protein Thioesterase 1 Enzyme Analysis
Neuronal Ceroid Lipofuscinosis 1 (CLN1): Palmitoyl-Protein Thioesterase 1 Enzyme Analysis
This test measures palmitoyl-protein thioesterase 1 enzyme activity and can be used as a first-tier test for patients with a clinical suspicion of neuronal ceroid lipofuscinosis 1 (CLN1). Confirming deficient enzyme activity is the gold standard in diagnosis and can be used to support the interpretation of variants and monitor patients undergoing treatment.
Neuronal Ceroid Lipofuscinosis Type 1 (CLN1)
Clinical Information
The neuronal ceroid lipofuscinoses (CLN) are a group of conditions that are inherited in an autosomal recessive pattern. CLN1 is characterized by progressive microcephaly, contractures, developmental delay, psychiatric symptoms, and neurological degeneration including seizures and ataxia. Retinal and macular degeneration leads to blindness by the age of 2 years with diminished or abolished ERG results. Age of onset varies with infantile, late-infantile, juvenile and adult-onset forms of the disease with younger ages of onset typically associated with a more rapid progression of symptoms. The intracellular accumulation of lipopigments results in a characteristic microscopic pattern called granular osmiophilic deposits (GROD).
Technical Information
4-methylumbelliferyl (4-MU) substrate
Specimen Requirements
Leukocytes: Minimum of 5 mL whole blood (7-10 mL preferred) collected in a sodium heparin tube
Transport Instructions
Leukocytes: Whole blood should be shipped at ambient temperature. If leukocytes are being isolated at another laboratory, the pellet should be frozen after specimen processing and shipped frozen on dry ice.
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC