Inherited metabolic disorders
Severe infantile autosomal recessive osteopetrosis
Severe infantile autosomal recessive osteopetrosis is a genetic disorder of bone remodeling. Overly dense bone can reduce marrow space and compress nerves. The historic word “malignant” describes severity; it does not mean cancer.
Other names and abbreviations
ARO · IMO · malignant infantile osteopetrosis · osteopetrosis · marble bone disease · Infantile malignant osteopetrosis · Autosomal recessive osteopetrosis, severe infantile form
Where transplant fits
Donor transplantation can supply functioning osteoclasts in transplant-responsive forms. It is not appropriate for every genotype: TNFSF11/RANKL defects and primary neurodegenerative forms require a different assessment, and established nerve injury may persist.
Treatment depends on the exact diagnosis, disease stage, prior treatment and the person’s health. These categories are not estimates of donor demand.
Treatment at a glance
- Who it affects
- Severe recessive forms often become apparent in infancy, although osteopetrosis as a whole includes several distinct disorders.
- Other treatment options
- Transfusion, infection treatment, mineral management and specialist care for vision, hearing, breathing and bone complications are used as needed.
- Cells used for transplantation
- Suitable donor bone marrow is often preferred. Cord blood is not routinely recommended in the cited guidance because graft failure is a concern.
Why the details matter
Genetic testing matters before transplant. OSTM1-related and neurodegenerative CLCN7-related disease must not inherit a generic curative-transplant claim.
Questions to bring to your care team
What is the exact diagnosis or subtype? What is the goal of each treatment option? If transplant is being considered, why does it fit this situation, which cells would be used and what are the alternatives?
Sources and further reading
- Inborn Errors of Metabolism and Osteopetrosis
EBMT Handbook · 2024-04-11
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