Palmitoyl-Protein Thioesterase 1

The Palmitoyl-Protein Thioesterase 1 test measures the level of the enzyme, palmitoyl-protein thioesterase 1, in your blood. 

This test is usually prescribed to

• Diagnose and monitor Infantile Neuronal Ceroid Lipofuscinosis (Cln1, Ncl).
• Assess the effectiveness of treatment for Infantile Neuronal Ceroid Lipofuscinosis (Cln1, Ncl).
• Understand other conditions affecting the metabolism of specific fats.
• Evaluate the risk of developing Infantile Neuronal Ceroid Lipofuscinosis (Cln1, Ncl) based on genetic factors or family history.

This test may be recommended for patients who

• Show symptoms of Infantile Neuronal Ceroid Lipofuscinosis (Cln1, Ncl) such as seizures, developmental delays, or vision problems.
• Have a family history of Infantile Neuronal Ceroid Lipofuscinosis (Cln1, Ncl).
• Are at risk of Infantile Neuronal Ceroid Lipofuscinosis (Cln1, Ncl) due to genetic factors.
• Require monitoring of treatment effectiveness for Infantile Neuronal Ceroid Lipofuscinosis (Cln1, Ncl).

Abnormal results may indicate the presence of Infantile Neuronal Ceroid Lipofuscinosis (Cln1, Ncl) or other conditions affecting lipid metabolism. 

During this test, a healthcare professional will collect a blood sample from your vein. The entire process is quick and relatively painless.

No specific preparations are usually required before this test. However, it is important to follow any instructions given by your doctor or the lab regarding fasting or medication restrictions on the day of the test. Be sure to inform your doctor about any medications or supplements you are currently taking. Please reach out to your healthcare provider for any specific requirements.

Other tests that may be ordered alongside the Palmitoyl-Protein Thioesterase 1 test include:

• Genetic testing to identify specific mutations associated with Infantile Neuronal Ceroid Lipofuscinosis (Cln1, Ncl).
• Neurological examinations to evaluate the extent of nervous system involvement.
• Additional blood tests to assess overall health and potential complications related to Infantile Neuronal Ceroid Lipofuscinosis (Cln1, Ncl).

PPT1

Infantile Neuronal Ceroid Lipofuscinosis (Cln1, Ncl) is a rare genetic disorder that affects the nervous system. It results in the abnormal accumulation of lipofuscins, a type of fatty pigment, in the body's cells. This leads to progressive neurodegeneration with symptoms appearing in early childhood.