What are the Symptoms of Phenylketonuria?

Phenylketonuria (PKU) is a genetic disorder that affects the body’s ability to process an amino acid called phenylalanine. Without treatment, phenylalanine can build up to harmful levels in the body. Symptoms of PKU can vary, but common signs may include:

  • Developmental Delays: Delayed development of skills like sitting, crawling, standing, and walking in infants and children.
  • Intellectual Disability: Severe cognitive impairment, including learning difficulties and lower IQ.
  • Behavioral Problems: Issues with behavior, attention, and hyperactivity.
  • Microcephaly: Abnormally small head size due to brain underdevelopment.
  • Seizures: Recurrent seizures or epileptic episodes.
  • Skin Conditions: A musty or mousy odor in the breath, skin, or urine due to excess phenylalanine.
  • Eczema or Skin Rashes: Skin problems, such as eczema or rashes.
  • Lighter Hair and Skin Pigmentation: Hair and skin may have a lighter coloration due to reduced production of melanin.
  • Vomiting and Refusal to Eat: Babies may refuse to eat or experience frequent vomiting.
  • Tremors or Twitching: Involuntary movements or twitching of the muscles.

It’s important to note that symptoms can vary in severity, and some individuals with PKU may have milder forms of the condition. Early diagnosis through newborn screening and strict adherence to a low-phenylalanine diet from infancy can significantly reduce the impact of PKU and prevent severe cognitive and neurological damage. Regular follow-ups with a healthcare team, including a metabolic dietitian, are crucial for managing PKU effectively.