Carrier Phenylketonuria

Based on your genetics, your genetic predisposition for Phenylketonuria is


What does this mean?

 Your genotype indicates that you carry the genetic mutation of Phenylketonuria.

How Is Your Genetic Risk Calculated?

This result is based on the SNPs(single nucleotide polymorphism)that are associated with Phenylketonuria.

Mutation Type
Clinical Significance
Inheritance Mode
Genes: PAH
Mutation Type NM_000277.2(PAH):c.441+1G>A
Clinical Significance Pathogenic/Likely pathogenic
Inheritance Mode Autosomal Recessive


This report does not diagnose any health conditions or provide medical advice. This should not be used as a diagnostic tool.
This result is limited to existing scientific research.
Please consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results.

What is Phenylketonuria?

Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism mainly caused by a deficiency of phenylalanine hydroxylase (PAH), an enzyme that convert phenylalanine to tyrosine which body needs to create neurotransmitters. Phenylalanine is found in all proteins and in some artificial sweeteners. Deficiency of PAH can result in the accumulation of excess phenylalanine to a harmful level that causes severe and irreversible intellectual disability if untreated. PKU initially do not have any symptoms. However, without treatment, babies usually develop signs of PKU within a few months.

Signs and Symptoms

Possible Inheritance Modes for Phenylketonuria

There is one inheritance mode of Phenylketonuria. Inheritance mode is how a gene will be passed down from parent to offspring.

Autosomal Recessive

The mutated gene is a recessive gene located on one of the non-sex chromosomes (autosomes). You can get the disease if inheritance both copies of abnormal mutation from your parent.

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