Tips

What is AMACR deficiency?

What is AMACR deficiency?

Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder that causes a variety of neurological problems that begin in adulthood and slowly get worse. People with AMACR deficiency may have a gradual loss in intellectual functioning (cognitive decline), seizures, and migraines.

What stains are in a PIN4?

PIN4 consists of a cocktail of three antibodies, including AMACR(P504S), p63, and high molecular weight cytokeratin.

What does abnormal cells in prostate mean?

It means there are unusual cells in your prostate but it’s not clear what they are or if they are cancerous. ASAP can be a group of cells that could be cancer cells but that are still too small to see clearly under the microscope. This means they can’t be diagnosed as cancer cells.

What if my prostate biopsy is positive?

If prostate cancer is found on a biopsy, it will be assigned a grade. The grade of the cancer is based on how abnormal the cancer looks under the microscope. Higher grade cancers look more abnormal, and are more likely to grow and spread quickly. There are 2 main ways to describe the grade of a prostate cancer.

What are the features of alpha methylacyl CoA racemase deficiency?

Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased (summary by Smith et al., 2010). [from OMIM]

What are the symptoms of AMACR deficiency in adults?

AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging.

Which is the first biomarker for CoA racemase?

One of the first biomarkers identified this way was α-methylacyl CoA racemase (AMACR).

Which is rare PSA or AMACR in melanoma?

Rare PSA expression occurs in melanomas. AMACR is useful in distinguishing prostatic carcinoma from benign prostatic tissue but has limited utility in a case of CUPS.