New Research Looks at Gray Matter Damage in People with PKU

Posted on March 23, 2016 by Disability Help Group

Phenylketonuria (PKU) is a congenital disorder where the body is unable to metabolize the phenylalanine amino acid, leading to a tyrosine deficiency. This causes people with this disorder to have buildups of the amino acid that can cause severe conditions such as muscle spasms, seizures, and intellectual disabilities.

This disease affects approximately one in every 10,000 children in the U.S. and is currently incurable. Current treatment involves dietary restrictions limiting the intake of protein. Studies on this disorder are uncommon because of the rarity of the condition, and the fact that most studies look at the impact on the brain’s white matter.

Recently, researchers at the University of Missouri took a deeper look at PKU through advanced MRI techniques. The study focused on the gray matter of the brain and the deep brain structures that transmit information. Looking at brain scans of 40 patients with and without PKU, the researchers found evidence of abnormalities in the gray matter of participants who received early treatment of  PKU.

Even with patients who received childhood diagnoses of PKU and started early treatment for the disease, damage is still possible over time. Researchers found damage to the gray matter was concentrated in the posterior regions of the brain, and was still ongoing even with long-term dietary management. Researchers are now looking at new methods of treatment and prevention to help protect the brains of PKU patients.

You May Qualify for Disability Benefits with PKU

Phenylketonuria, listed on the Social Security Administration’s (SSA) Listing of Impairments, is a congenital disorder that affects multiple body systems. If your condition fits the SSA’s disability qualifications, you may be entitled to benefits. Contact the Disability Help Group at 800-800-2009 to schedule a consultation with our disability advocates!