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Is Phenylketonuria Genetic?
- Heritability
- ~100%
- Inheritance
- autosomal-recessive
- Key genes
- PAH
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PKU is a metabolic disorder caused by mutations in the PAH gene. Carrier screening identifies couples at risk of having an affected child.
How Genetic Is Phenylketonuria?
Phenylketonuria has a strong genetic basis. Research estimates heritability at approximately 100%, meaning genetic factors account for the majority of variation in whether individuals develop this condition.
Key genes associated with Phenylketonuria: PAH. Variants in these genes have been identified through genome-wide association studies (GWAS) and clinical research as influencing susceptibility or severity.
Source: MedlinePlus Genetics
Does Family History Matter for Phenylketonuria?
Yes — family history is one of the strongest predictors of Phenylketonuria. If a first-degree relative (parent, sibling, or child) has been diagnosed, your own risk may be significantly elevated. Discussing your family history with a healthcare provider or genetic counsellor is strongly recommended.
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