Overview
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency (also sometimes called MARS-related pulmonary alveolar proteinosis or MARS-PAP) is a very rare inherited lung disease that appears in infancy or early childhood. It is caused by changes (mutations) in the MARS gene, which provides instructions for making an enzyme called methionyl-tRNA synthetase. This enzyme plays a critical role in building proteins inside cells. When it does not work properly, a fatty, protein-rich substance builds up inside the tiny air sacs of the lungs (called alveoli), making it very hard to breathe. This buildup is what doctors call pulmonary alveolar proteinosis, or PAP. Children with this condition typically develop serious breathing problems very early in life. Common symptoms include rapid or labored breathing, low oxygen levels, poor weight gain, and frequent lung infections. The lungs become progressively less able to transfer oxygen into the blood, which can be life-threatening without treatment. Treatment is very challenging. Whole lung lavage — a procedure that washes out the lungs — can provide temporary relief but is not a cure. Lung transplantation has been used in some severe cases. There are no approved drug therapies specifically targeting the MARS gene defect at this time, making this a disease with significant unmet medical needs. Ongoing research is exploring gene therapy and other approaches.
Also known as:
Key symptoms:
Fast or labored breathingLow oxygen levels in the bloodBluish tint to the lips or fingertips (cyanosis)Poor weight gain or failure to thriveChronic coughFrequent lung infections or pneumoniaExtreme tiredness and low energyDifficulty feeding in infantsClubbing of the fingers over timeExercise intolerance
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency.
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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
No travel grants are currently matched to Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.How quickly is my child's lung disease likely to progress, and what signs should I watch for?,How often will my child need whole lung lavage, and what are the risks of this procedure?,Should we be evaluated for lung transplantation, and when would that become necessary?,Are there any clinical trials or experimental treatments we should consider?,What vaccinations are especially important for my child to protect their lungs?,How do we manage oxygen therapy at home, and what equipment will we need?,Should other family members be tested for the MARS gene mutation?
Common questions about Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
What is Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency?
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency (also sometimes called MARS-related pulmonary alveolar proteinosis or MARS-PAP) is a very rare inherited lung disease that appears in infancy or early childhood. It is caused by changes (mutations) in the MARS gene, which provides instructions for making an enzyme called methionyl-tRNA synthetase. This enzyme plays a critical role in building proteins inside cells. When it does not work properly, a fatty, protein-rich substance builds up inside the tiny air sacs of the lungs (called alveoli), making it very hard to breath
How is Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency inherited?
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency typically begin?
Typical onset of Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency is infantile. Age of onset can vary across affected individuals.
Which specialists treat Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency?
1 specialists and care centers treating Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.