Overview
Methylmalonic acidemia with homocystinuria, type cblJ (sometimes written as MMA with homocystinuria cblJ) is a very rare inherited metabolic disorder. It belongs to a group of conditions called cobalamin (vitamin B12) metabolism defects. In this disease, the body cannot properly process vitamin B12 inside cells, which leads to a buildup of two harmful substances: methylmalonic acid and homocysteine. These buildups can damage many organs, especially the liver, brain, kidneys, and blood. The disease is caused by changes (mutations) in a gene called ABCD4, which normally helps transport vitamin B12 into the right part of the cell where it can be used. When this gene does not work properly, the body's chemistry goes out of balance. Symptoms can appear in infancy or early childhood and may include feeding difficulties, poor growth, low energy, and neurological problems. The liver can be severely affected, which is why some patients may eventually need a liver transplant. Treatment usually involves high doses of hydroxocobalamin (a form of vitamin B12 given by injection), along with dietary management and other supportive therapies. Early diagnosis and treatment can significantly improve outcomes, though the disease remains serious and requires lifelong medical care.
Key symptoms:
Poor feeding and difficulty eating, especially in infancySlow growth and low weight gainExtreme tiredness and low energyYellowing of the skin or eyes (jaundice) due to liver problemsEnlarged liverDevelopmental delays or regression (losing skills already learned)Muscle weakness or poor muscle toneSeizuresAnemia (low red blood cell count causing paleness and fatigue)Intellectual disability or learning difficultiesKidney problemsAbnormal eye movements or vision problems
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Rare disorder potentially indicated for liver transplant.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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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.What dose and schedule of hydroxocobalamin injections does my child need, and how do I give them at home?,How much protein is safe in the diet, and do we need a special metabolic formula?,What signs should prompt me to go to the emergency room immediately?,How often do we need blood and urine tests to monitor the disease?,Is my child's liver damage reversible, and at what point would a liver transplant be considered?,What therapies (physical, occupational, speech) should my child be receiving, and how do I access them?,Should other family members be tested to see if they are carriers or affected?
Common questions about Rare disorder potentially indicated for liver transplant
What is Rare disorder potentially indicated for liver transplant?
Methylmalonic acidemia with homocystinuria, type cblJ (sometimes written as MMA with homocystinuria cblJ) is a very rare inherited metabolic disorder. It belongs to a group of conditions called cobalamin (vitamin B12) metabolism defects. In this disease, the body cannot properly process vitamin B12 inside cells, which leads to a buildup of two harmful substances: methylmalonic acid and homocysteine. These buildups can damage many organs, especially the liver, brain, kidneys, and blood. The disease is caused by changes (mutations) in a gene called ABCD4, which normally helps transport vitamin
How is Rare disorder potentially indicated for liver transplant inherited?
Rare disorder potentially indicated for liver transplant follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.