Alpha-methylacyl CoA racemase expression (Alpha-methylacyl-CoA racemase deficiency) - Gen AMACR.

The Alpha-methylacyl CoA racemase expression (AMACR) is a disease that causes a variety of neurological problems that begin in adulthood and worsen slowly. Affected individuals may have cognitive impairment, seizures and migraines. They may also have acute episodes similar to a stroke, which involve alteration of consciousness and brain injuries encephalopathy. Other features of AMACR deficiency may include sensorimotor neuropathy, spasticity and ataxia. In addition, vision problems caused by retinal damage may occur.

This process is due to mutations in AMACR, located on the short arm of chromosome 5 (5p13). This gene encodes alpha-methylacyl-CoA racemase enzyme (AMACR). This enzyme is found in mitochondria and peroxisomes. Peroxisomes contain a variety of enzymes that break down many different substances, including fatty acids and certain toxic compounds. They are also important for lipid synthesis used in digestion and in the nervous system. Peroxisomes, the AMACR enzyme plays a role in the breakdown of pristanic acid, which comes from meat and dairy products in the diet. In mitochondria, it is believed that helps break AMACR further molecules derived from pristanic acid.

Most AMACR deficient individuals have a mutation in AMACR replacing the amino acid serine by the amino acid proline at position 52 in the sequence of the enzyme (Ser52Pro or S52P). This mutation leads to a deficiency of functional enzyme. The enzyme deficiency leads to the accumulation of acid in the blood pristanic. However, it is unclear how this accumulation relates to the specific signs and symptoms of deficiency AMACR.

This disease is inherited in an autosomal recessive pattern, that is, both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.

Tests in IVAMI: in IVAMI perform detection of mutations associated with alpha-methylacyl-CoA racemase expression (AMACR), by complete PCR amplification of exons AMACR, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).