Rare metabolic liver disease

Last reviewed March 21, 2026

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ORPHA:101940

Who is this for?

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9Specialists 8Treatment centers 1Financial resources

Where are you in your journey?

ℹ

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

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Overview

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Rare metabolic liver disease.

View clinical trials →

Clinical Trials

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No actively recruiting trials found for Rare metabolic liver disease at this time.

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

Search ClinicalTrials.gov ↗Join the Rare metabolic liver disease community →

Specialists

9 foundView all specialists →

KM

Karl E Anderson, MD

Specialist

Acute hepatic porphyria Congenital erythropoietic porphyria Disorder of porphyrin and heme metabolism+8 more

PI on 3 active trials

Active trials Directions Travel grants

NM

Nicholas Ah Mew, MD

Specialist

3-hydroxyacyl-CoA dehydrogenase deficiency Acyl-CoA dehydrogenase deficiency Argininosuccinic aciduria+19 more

PI on 5 active trials

Active trials Directions Travel grants

DF

Dr. Gianluca Forni

Specialist

PI on 1 active trial

Active trials Directions Travel grants

DB

Dr. Yves Bertrand

Specialist

PI on 1 active trial

Active trials Directions Travel grants

PG

Prof. Renzo Galanello

Specialist

PI on 1 active trial

Active trials Directions Travel grants

PP

Prof. Antonio Piga

Specialist

PI on 1 active trial

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

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

BM

Brendan McGuire, MD

Specialist

Congenital erythropoietic porphyria Disorder of porphyrin and heme metabolism Erythropoietic porphyria+6 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

Financial Resources

1 resources

Tindamax

Presutti Laboratories, Inc.

Tindamax — Contact Presutti Laboratories, Inc.

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Patient Assistance

Manufacturer Program

Accepting applications

Travel Grants

No travel grants are currently matched to Rare metabolic liver disease.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Rare metabolic liver diseaseForum →

No community posts yet. Be the first to share your experience with Rare metabolic liver disease.

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Latest news about Rare metabolic liver disease

No recent news articles for Rare metabolic liver disease.

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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 metabolic liver disease

Which specialists treat Rare metabolic liver disease?

9 specialists and care centers treating Rare metabolic liver disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.

What treatment and support options exist for Rare metabolic liver disease?

1 patient support program are currently tracked on UniteRare for Rare metabolic liver disease. See the treatments and support programs sections for copay assistance, eligibility, and contact details.