Trait
Hyperphenylalaninemia
The concentration of L-phenylalanine in the blood circulation is above the upper limit of normal.
Summary
- Also called
- Elevated phenylalanine concentration, Elevated phenylalanine level, Elevated phenylalanine level in blood, Increased phenylalanine concentration, Increased phenylalanine level, Increased phenylalanine level in blood
- Body system
- Laboratory abnormality
Reference genomeGRCh38hg38
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Get my Genome Test5 genes linked to Hyperphenylalaninemia
Changes in these genes cause rare conditions in which Hyperphenylalaninemia is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| GCH1GTP cyclohydrolase 1 | Always | In 1 condition |
| PTS6-pyruvoyltetrahydropterin synthase | Always | In 1 condition |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Very often (80–99%) | In 2 conditions |
| PAHphenylalanine hydroxylase | Not recorded | In 1 condition |
| QDPRquinoid dihydropteridine reductase | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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