DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Phenylketonuria (PKU)

HIGH SEVERITY

An inherited metabolic disorder caused by deficiency of phenylalanine hydroxylase, leading to accumulation of phenylalanine. If untreated, causes severe intellectual disability, seizures, and behavioral problems. Newborn screening allows early treatment.

Global Affected

50.0K

Countries

22

Symptoms

Intellectual disability (untreated)
Seizures
Behavioral problems
Musty odor
Lighter skin/hair/eyes
Eczema
Tremors

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Excellent with lifelong dietary management. Normal intelligence and lifespan if diet maintained from birth. Maternal PKU requires strict control for pregnancy outcomes.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Low-phenylalanine diet lifelong. Sapropterin dihydrochloride for responsive patients. Pegvaliase (enzyme substitution) for adults with uncontrolled PKU. Gene therapy in development. Excellent outcome with early treatment.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanChinaIndiaBrazilMexicoIrelandSwedenNorwayDenmarkFinlandNetherlandsBelgiumSwitzerlandAustria

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.