Condition group
Inherited metabolic disorders
Genetic conditions that disrupt how the body processes substances. Transplant is an option for selected disorders and stages.
Start with the name you were given
Some diagnoses cover several subtypes. These guides explain how they fit together.
Conditions in this group
Grouped by the part transplant usually plays. Treatment depends on the exact diagnosis, disease stage, prior treatment and the person’s health.
Donor transplant option 6
A transplant using a donor’s blood-forming cells is an established option for selected patients. A team may consider relatives, unrelated registry donors or cord blood, depending on the circumstances.
- In-depth guide
Cerebral adrenoleukodystrophy (cALD)
Cerebral X-linked adrenoleukodystrophy is an ABCD1-related disorder in which inflammatory myelin damage can cause progressive neurologic loss. Not everyone with an ABCD1 variant develops cerebral disease.
Donor transplant option - In-depth guide
Hurler syndrome (severe MPS I)
Hurler syndrome is the severe form of mucopolysaccharidosis type I, caused by IDUA deficiency. Glycosaminoglycans accumulate and can affect development, bones, joints, heart, breathing, hearing and vision.
Donor transplant option - In-depth guide
Infantile Krabbe disease
Infantile Krabbe disease is a genetic disorder, usually caused by GALC deficiency, that damages myelin in the brain and peripheral nerves. Early disease can progress quickly, making assessment before symptoms especially important.
Donor transplant option - In-depth guide
Late-infantile and juvenile Krabbe disease
Later-onset Krabbe disease is a GALC-related disorder in which myelin damage begins after the earliest infantile period. It can affect walking, vision, coordination and other neurologic functions, with variable progression.
Donor transplant option - In-depth guide
Late-juvenile metachromatic leukodystrophy (MLD)
Late-juvenile metachromatic leukodystrophy is a later-childhood form of an inherited sulfatide-storage disorder. Myelin damage can affect learning, behavior, walking and other neurologic functions.
Donor transplant option - In-depth guide
Severe infantile osteopetrosis (ARO)
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.
Donor transplant option
Cell or gene therapy options 2
Cell or gene therapies may be options for eligible patients in some countries. They do not all work the same way, use the same cells or replace the same type of transplant.
- In-depth guide
Early-juvenile metachromatic leukodystrophy (MLD)
Early-juvenile metachromatic leukodystrophy is a childhood form of an inherited disorder in which sulfatides accumulate and damage myelin. Movement, learning and other neurologic functions can deteriorate.
Cell or gene therapy options - In-depth guide
Late-infantile metachromatic leukodystrophy (MLD)
Late-infantile metachromatic leukodystrophy is a rapidly progressive early-childhood disorder, usually caused by ARSA deficiency. Accumulated sulfatides damage the insulating myelin around nerves, affecting movement and other neurologic functions.
Cell or gene therapy options
Limited transplant role 6
Other treatments are usual. Transplant may be considered in selected circumstances or research settings, as described on the condition page.
- In-depth guide
Adult-onset metachromatic leukodystrophy (MLD)
Adult-onset metachromatic leukodystrophy is a later form of an inherited sulfatide-storage disorder, usually caused by ARSA deficiency. It damages myelin in the nervous system and may first appear as changes in behavior, thinking or movement.
Limited transplant role - In-depth guide
Alpha-mannosidosis
Alpha-mannosidosis is a MAN2B1-related lysosomal disorder in which certain sugar-containing molecules accumulate. It can affect hearing, learning, bones, movement and immunity, with widely varying severity.
Limited transplant role - In-depth guide
Fucosidosis
Fucosidosis is a FUCA1-related lysosomal enzyme disorder. Accumulated molecules can affect development, movement, breathing, hearing, skin and the skeleton; severity varies.
Limited transplant role - In-depth guide
Gaucher disease type 3
Gaucher disease type 3 is a GBA1-related lysosomal disorder with both systemic and slowly progressive neurologic manifestations. It can affect blood counts, liver, spleen, bones and eye movements or other nervous-system functions.
Limited transplant role - In-depth guide
I-cell disease (mucolipidosis II)
Mucolipidosis II alpha/beta is a GNPTAB-related disorder that disrupts the delivery of several enzymes to lysosomes. It can cause severe skeletal, growth, cardiac and respiratory problems beginning very early in life.
Limited transplant role - In-depth guide
Niemann-Pick disease type C2 (NPC2)
NPC2-related Niemann-Pick disease type C is a genetic disorder of intracellular lipid transport. It can affect the liver, spleen, lungs and nervous system; some infants have severe pulmonary disease.
Limited transplant role
Other condition groups
Understanding transplant
Understanding can become action.
Some patients need a blood stem cell donor. Others receive different treatment. Wherever your interest began, you can help more people find the donor they need.
Join the registry
JBF points you to the official registry that serves your country. It explains who can join and what donation involves.
Help someone you love find a donor
If someone you love needs a donor, our family guide explains practical ways to help. A registration drive can add many potential donors at once, for them and for others.
Support this work
Gifts to the Jada Bascom Foundation support donor-awareness education like this page, community outreach, drive planning and referrals to official registries.
