Pyruvate dehydrogenase E2 deficiency

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ORPHA:79244OMIM:245348E74.4
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8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Also known as:

Clinical phenotype terms— hover any for plain English:

Decreased circulating vitamin B1 concentrationHP:0100503Abnormal CSF pyruvate family amino acid concentrationHP:0500231Retinal degenerationHP:0000546NeurodegenerationHP:0002180Paroxysmal dystoniaHP:0002268Eye of the tiger anomaly of globus pallidusHP:0002454Positional foot deformityHP:0005656Upgaze palsyHP:0025331
Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Pyruvate dehydrogenase E2 deficiency.

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No actively recruiting trials found for Pyruvate dehydrogenase E2 deficiency at this time.

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No specialists are currently listed for Pyruvate dehydrogenase E2 deficiency.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Pyruvate dehydrogenase E2 deficiency.

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Community

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Latest news about Pyruvate dehydrogenase E2 deficiency

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Caregiver Resources

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Social Security Disability

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