Metabolic Autosomal Recessive Treatment Available

Phenylketonuria (PKU)

A metabolic disorder preventing breakdown of phenylalanine. Without dietary treatment, causes intellectual disability. Highly treatable with early diagnosis.

Genetic Information

Associated Gene

PAH

Inheritance Pattern

Autosomal Recessive

Carrier Frequency

1 in 50

Signs and Symptoms
  • Intellectual disability (if untreated)
  • Musty odor in urine, skin, breath
  • Behavioral problems
  • Seizures
Treatment and Management
Treatment is available for this condition.

Low-phenylalanine diet, medical formula, sapropterin (Kuvan)

How Is It Inherited?

This condition follows an autosomal recessive inheritance pattern. This means:

  • Carriers (1 copy) are typically healthy with no symptoms
  • Affected individuals (2 copies) have the condition
  • If both parents are carriers: 25% chance with each pregnancy that the child will be affected
Carrier testing is recommended for individuals with a family history or from populations with higher carrier rates.
Medical Reference

For detailed clinical information, visit the GeneReviews article:

GeneReviews: Phenylketonuria (PKU)
Quick Facts
Category Metabolic
Inheritance Autosomal Recessive
Gene(s) PAH
Treatable Yes
Have Questions?

Speak with a board-certified genetic counselor to learn more about this condition and what it means for you.

Book Consultation
Resources
GeneReviews Article OMIM Database ClinVar Variants MedlinePlus Genetics
Disclaimer: This information is for educational purposes only and should not replace professional genetic counseling. If you have questions about genetic test results, please consult with a certified genetic counselor.