SNP Shot: Genomic Insights

Alpha-methylacyl-CoA racemase (AMACR) deficiency is a condition that leads to progressively worsening neurological issues typically appearing in adulthood. Individuals with this deficiency can experience a gradual decline in cognitive abilities, seizures, and frequent migraines. They may also suffer from encephalopathy, characterized by stroke-like episodes with altered awareness and brain lesions. Furthermore, AMACR deficiency can manifest as weakness and sensory loss in the extremities due to nerve damage (sensorimotor neuropathy), muscle stiffness (spasticity), and impaired coordination (ataxia). Vision impairments can also occur as a result of retinal degeneration.

Inheritance:

AMACR deficiency follows an autosomal recessive inheritance pattern. This means that for an individual to be affected, both copies of the AMACR gene in their cells must contain mutations. Individuals who inherit only one mutated gene copy are carriers; they usually do not exhibit any symptoms of the condition, but can pass the mutated gene to their children.