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PHENYLKETONURIA (PKU)

Phenylalanine is an amino acid that is needed by the body to produce melanin. Melanin is responsible for skin pigmentation and hair color. In order for the body to use phenylalanine, it has to break down and processed by the body. Phenylketonuria or PKU is a rare condition where the body is not able to break down the phenylalanine and this is because of a missing enzyme called phenylalanine hydroxylase. Phenylalanine is found in foods that contain protein. Without this enzyme, phenylalanine will build up in the body. This build-up can affect and cause harm to the central nervous system and may cause damage to the brain.

Children affected with this disorder may have lighter skin, hair and eyes compared to the rest of the family. Additional symptoms include:

  • Delayed development of mental and social skills
  • The size of their head is much smaller than normal
  • Hyperactivity
  • The arms and legs will have abnormal jerking movements
  • General mental disability
  • Formation of skin rashes
  • Seizures
  • Tremors

If food with phenylalanine is eaten, it can cause the musty or mousy odor of an affected individual’s breath, skin, ear wax, and urine. This is due to the buildup of phenylalanine substances in the body.

Phenylketonuria is a treatable disease, but if left untreated, it can lead to a serious medical condition involving mental health. Part of the PKU treatment is a strict low phenylalanine diet. A dietician should be working closely with the doctor, parent, and child or the affected individual to ensure that the patient’s diet is low of phenylalanine.

To learn more about Phenylketonuria and its complications, please visit:
https://medlineplus.gov
https://medlineplus.gov
http://www.nhs.uk

If you think you are suffering from Phenylketonuria you should seek medical assistance. You may also be entitled to Social Security Disability Benefits. The SSA considered Phenylketonuria as a medical condition that would make you eligible for SSDI and SSI. Social Security Administration (SSA) maintains a “Listing of Medical Impairments” (known as the blue book) that automatically qualify you for Social Security Disability Insurance (SSDI) or Supplemental Security Income (SSI).