Key Indicators Of Phenylketonuria

Neurological Issues

Neurological issues commonly manifest in phenylketonuria patients. The high levels of phenylalanine found in these individuals can easily cause abnormalities to occur in the myelin sheath around the nerves. The myelin sheath is responsible for the uninterrupted transmission of signals between nerves throughout the central nervous system. When this sheath has abnormalities, the proper transmission of signals between the nerves is disrupted. This disruption may result in the patient experiencing random muscle spasms, frequent seizures, and other disturbances in general motor function. Even individuals with phenylketonuria who are treated promptly can develop brisk tendon reflexes or tremor from the abnormalities that occur in the white matter. White matter is the tissues of the brain that produce the myelin sheath for the nerves. An individual with phenylketonuria may have a lower IQ than others their age, develop learning disabilities, and have frequent memory loss. Anxiety, depression, panic attacks, and other emotional problems are also fairly common neurological issues that manifest in phenylketonuria patients.

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