Rare inborn errors of metabolism

Last reviewed March 21, 2026

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1FDA treatments 13Specialists 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:

Rare metabolic disease

Orphanet ↗NORD ↗

FDA & Trial Timeline

2 events

Jun 2020Rare Obesity Cohorts With Food Behavioral Disorders : Better Diagnosis for Better Treatment

Assistance Publique - Hôpitaux de Paris

TrialRECRUITING

Mar 2015Cholbam: FDA approved

Treatment of bile acid synthesis disorders due to single enzyme defects

FDAcompleted

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

1 available

Cholbam

CHOLIC ACID· Mirum Pharmaceuticals Inc.Orphan Drug

Treatment of bile acid synthesis disorders due to single enzyme defects

View Details →FDA Label ↗

Clinical Trials

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No actively recruiting trials found for Rare inborn errors of metabolism at this time.

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

Search ClinicalTrials.gov ↗Join the Rare inborn errors of metabolism community →

Specialists

13 foundView all specialists →

WM

William A Gahl, M.D.

Bethesda, Maryland

Specialist

Rare Disease Specialist

Autosomal anomaly syndrome Congenital muscular dystrophy due to dystroglycanopathy Cystinosis+14 more

PI on 12 active trials

Active trials Directions Travel grants

WM

Wolfgang Köhler, MD

Specialist

Adrenomyeloneuropathy Peroxisomal disease Rare adrenal disease+8 more

PI on 2 active trials1 Rare inborn errors of metabolism publication

Active trials Directions Travel grants

AM

Amel Karaa, MD

BOSTON, MA

Specialist

Ehlers-Danlos syndrome Genetic cerebral small vessel disease Genetic skin vascular disorder+17 more

PI on 3 active trials

Active trials Directions Travel grants

PP

Petros Kountouris, PhD

Specialist

Alpha-thalassemia and related disorders Alpha-thalassemia-myelodysplastic syndrome Beta-thalassemia and related disorders+24 more

PI on 3 active trials

Active trials Directions Travel grants

DM

David Goldfarb, MD

Specialist

Adenine phosphoribosyltransferase deficiency Cystinuria Dent disease+9 more

PI on 4 active trials

Active trials Directions Travel grants

BM

Béatrice Gulbis, MD

Specialist

Alpha-thalassemia and related disorders Alpha-thalassemia-myelodysplastic syndrome Beta-thalassemia and related disorders+24 more

PI on 2 active trials

Active trials Directions Travel grants

MP

María del Mar Manú Pereira, PhD

Specialist

Alpha-thalassemia and related disorders Alpha-thalassemia-myelodysplastic syndrome Beta-thalassemia and related disorders+24 more

PI on 2 active trials

Active trials Directions Travel grants

LP

Laura M Koehly, Ph.D.

Specialist

CLN3 disease Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia type 1+14 more

PI on 5 active trials

Active trials Directions Travel grants

CM

Carlos R Ferreira Lopez, M.D.

Bethesda, Maryland

Specialist

Rare Disease Specialist

Autosomal recessive hypophosphatemic rickets Disorder of carbohydrate metabolism Generalized arterial calcification of infancy+16 more

PI on 2 active trials

Active trials Directions Travel grants

MP

Maria Lourdes Posadas Martinez, PhD

Specialist

Adrenogenital syndrome Autoimmune lymphoproliferative syndrome Congenital adrenal hyperplasia+61 more

PI on 1 active trial

Active trials Directions Travel grants

MP

Marcelo Serra, PhD

Buenos Aires, Buenos Aires

Specialist

Rare Disease Specialist

Adrenogenital syndrome Autoimmune lymphoproliferative syndrome Congenital adrenal hyperplasia+62 more

PI on 1 active trial

Active trials Directions Travel grants

SM

Soledad Kleppe, MD

Specialist

Adrenogenital syndrome Autoimmune lymphoproliferative syndrome Congenital adrenal hyperplasia+62 more

PI on 1 active trial

Active trials Directions Travel grants

DD

David Sas, DO

ROCHESTER, MN

Specialist

Adenine phosphoribosyltransferase deficiency Cystinuria Dent disease+11 more

PI on 1 active trial

Active trials Directions Travel grants

Treatment Centers

8 centers

Baylor College of Medicine Rare Disease Center ↗

Baylor College of Medicine

📍 Houston, TX

Stanford Medicine Rare Disease Center ↗

Stanford Medicine

📍 Stanford, CA

NIH Clinical Center Undiagnosed Diseases Program ↗

National Institutes of Health

📍 Bethesda, MD

UCLA UDN Clinical Site ↗

UCLA Health

📍 Los Angeles, CA

Baylor College of Medicine UDN Clinical Site ↗

Baylor College of Medicine

📍 Houston, TX

Harvard/MGH UDN Clinical Site ↗

Massachusetts General Hospital

📍 Boston, MA

Mayo Clinic Center for Individualized Medicine ↗

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

UCLA Rare Disease Day Program ↗

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Rare inborn errors of metabolism.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Rare inborn errors of metabolism

1 articles

Clinical trialCLINICALTRIALSMar 26, 2026

Trial Now Recruiting: Diagnosis and Treatment of Patients With Inborn Errors of Metabolism (NCT00369421)

Researchers at the National Institutes of Health are looking for up to 4,000 patients with rare metabolic disorders to study and treat. These are conditions whe…

See all news about Rare inborn errors of metabolism →

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

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

Common questions about Rare inborn errors of metabolism

Which specialists treat Rare inborn errors of metabolism?

13 specialists and care centers treating Rare inborn errors of metabolism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.