Disorder of magnesium transport

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ORPHA:309848E83.4
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3Specialists8Treatment centers

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

Disorder of magnesium transport is a group of rare genetic conditions that affect how your body handles magnesium, an essential mineral needed for hundreds of processes in your cells, muscles, nerves, and bones. In these disorders, the kidneys or intestines cannot properly absorb or hold onto magnesium, leading to chronically low magnesium levels in the blood (called hypomagnesemia). This can cause a wide range of symptoms including muscle cramps, tremors, seizures, fatigue, irregular heartbeat, and tingling or numbness. In some forms, low magnesium also leads to problems with calcium and potassium levels, since these minerals work closely together in the body. These disorders are caused by mutations in genes that produce proteins responsible for transporting magnesium across cell membranes in the kidneys and gut. Several different genes can be involved, and the specific gene affected determines the exact pattern of symptoms and inheritance. Some forms appear in infancy with severe seizures, while others may not become apparent until childhood or adulthood with milder symptoms like muscle weakness or fatigue. Treatment mainly involves lifelong magnesium supplementation, either by mouth or through intravenous infusion when levels are dangerously low. While there is no cure, consistent treatment can help manage symptoms and prevent serious complications like seizures and heart rhythm problems. Regular blood tests to monitor magnesium and other electrolyte levels are essential for ongoing care.

Key symptoms:

Muscle cramps and spasmsSeizures or convulsionsTremors or shakingTingling or numbness in hands and feetFatigue and weaknessIrregular or fast heartbeatLow calcium levels causing additional symptomsLow potassium levelsPoor growth in childrenKidney stones or calcium deposits in the kidneysExcessive urinationDifficulty concentratingIrritability or mood changesBone weakness or fracturesNausea or vomiting

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Disorder of magnesium transport.

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No actively recruiting trials found for Disorder of magnesium transport at this time.

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Specialists

3 foundView all specialists →
MM
Menachem Miodovnik
Specialist
PI on 1 active trial20 Disorder of magnesium transport publications
DM
Dwight Rouse, MD
PROVIDENCE, RI
Specialist
PI on 1 active trial
BM
Björn Schultze, MD
Specialist
PI on 1 active trial

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 Disorder of magnesium transport.

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Community

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Latest news about Disorder of magnesium transport

No recent news articles for Disorder of magnesium transport.

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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.

Questions for your doctor

Bring these to your next appointment

  • Q1.Which specific type of magnesium transport disorder do I or my child have, and which gene is affected?,What is the target magnesium level we should aim for, and how often should blood levels be checked?,What form and dose of magnesium supplement is best, and how can we manage diarrhea side effects?,Are there signs I should watch for that would require emergency treatment?,Will this condition affect my kidneys over time, and how will kidney function be monitored?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments being studied for this disorder?

Common questions about Disorder of magnesium transport

What is Disorder of magnesium transport?

Disorder of magnesium transport is a group of rare genetic conditions that affect how your body handles magnesium, an essential mineral needed for hundreds of processes in your cells, muscles, nerves, and bones. In these disorders, the kidneys or intestines cannot properly absorb or hold onto magnesium, leading to chronically low magnesium levels in the blood (called hypomagnesemia). This can cause a wide range of symptoms including muscle cramps, tremors, seizures, fatigue, irregular heartbeat, and tingling or numbness. In some forms, low magnesium also leads to problems with calcium and pota

Which specialists treat Disorder of magnesium transport?

3 specialists and care centers treating Disorder of magnesium transport are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.