Trait
Transient hyperphenylalaninemia
A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).
Summary
- Body system
- Laboratory abnormality
Reference genomeGRCh38hg38
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Get my Genome Test5 genes linked to Transient hyperphenylalaninemia
Changes in these genes cause rare conditions in which Transient 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 | Often (30–79%) | In 2 conditions |
| IMPDH2inosine monophosphate dehydrogenase 2 | Often (30–79%) | In 1 condition |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Often (30–79%) | In 1 condition |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Not recorded | In 1 condition |
| SPRsepiapterin 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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