You are not alone. Here is where to start: learn the basics, find a specialist or center that sees PHGDH deficiency, look for clinical trials, and connect with others living with it — all in one place.
Open the full PHGDH deficiency hub →PHGDH deficiency is a rare condition. Also known as PHGDH deficiency, infantile/juvenile form. Tomeko brings together the specialists, research, clinical trials, treatments and community for PHGDH deficiency so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:79351 · OMIM 601815 · ICD-10 E72.8 · GARD 0016718
Start by learning the basics from an authoritative source, find a specialist or center that sees PHGDH deficiency, and connect with a patient organization. Tomeko brings these together on one hub.
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat PHGDH deficiency, filtered to your area.
Tomeko shows live, recruiting studies for PHGDH deficiency from ClinicalTrials.gov on the hub.