Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

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ORPHA:88639OMIM:250620E71.1
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1FDA treatments8Treatment centers1Financial resources

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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:

Abnormality of mitochondrial metabolismHP:0003287
Orphanet ↗OMIM ↗NORD ↗

Treatments

1 available

Cystadane

BETAINE· Recordati Rare Diseases

indicated for the treatment of homocystinuria to decrease elevated homocysteine blood concentrations

No actively recruiting trials found for Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency community →

No specialists are currently listed for Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase 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

Financial Resources

1 resources
Cystadane(BETAINE)Recordati Rare Diseases

Travel Grants

No travel grants are currently matched to Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency.

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Community

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Latest news about Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

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Caregiver Resources

NORD Caregiver Resources

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Mental Health Support

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Family & Caregiver Grants

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Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.