You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Hypotonia with lactic acidemia and hyperammonemia, look for clinical trials, and connect with others living with it — all in one place.
Open the full Hypotonia with lactic acidemia and hyperammonemia hub →Hypotonia with lactic acidemia and hyperammonemia is a rare condition. Also known as COXPD5, Combined oxidative phosphorylation defect type 5. Tomeko brings together the specialists, research, clinical trials, treatments and community for Hypotonia with lactic acidemia and hyperammonemia so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:137908 · OMIM 611719 · ICD-10 E88.8 · GARD 0016950
Start by learning the basics from an authoritative source, find a specialist or center that sees Hypotonia with lactic acidemia and hyperammonemia, 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 Hypotonia with lactic acidemia and hyperammonemia, filtered to your area.
Tomeko shows live, recruiting studies for Hypotonia with lactic acidemia and hyperammonemia from ClinicalTrials.gov on the hub.