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Phenylketonuria

Just diagnosed with Phenylketonuria?

You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Phenylketonuria, look for clinical trials, and connect with others living with it — all in one place.

Open the full Phenylketonuria hub →

Overview

Phenylketonuria is a rare condition. Also known as PKU. Tomeko brings together the specialists, research, clinical trials, treatments and community for Phenylketonuria so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.

Identifiers: ORPHA:716 · OMIM 261600 · ICD-10 E70.0, E70.1 · GARD 0007383

Find care for Phenylketonuria

Authoritative references for Phenylketonuria

Common questions

I was just diagnosed with Phenylketonuria — what should I do first?

Start by learning the basics from an authoritative source, find a specialist or center that sees Phenylketonuria, and connect with a patient organization. Tomeko brings these together on one hub.

Where can I find a specialist for Phenylketonuria?

Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Phenylketonuria, filtered to your area.

Are there clinical trials for Phenylketonuria?

Tomeko shows live, recruiting studies for Phenylketonuria from ClinicalTrials.gov on the hub.

Informational only — not medical advice. Always consult a qualified clinician. Provider and reference data from public sources (NIH GARD, Orphanet, OMIM, HPO, MONDO, ClinicalTrials.gov, CMS NPPES). © Tomeko · tomekohealth.com