Metachromatic leukodystrophy due to saposin B deficiency

Common Name(s)

Metachromatic leukodystrophy due to saposin B deficiency

Metachromatic leukodystrophy due to saposin B deficiency is an inherited condition characterized by progressive loss of muscle tone/strength, motor abilities, and cognitive abilities. Its symptoms are similar to metachromatic leukodystrophy or MLD (please also see: metachromatic leukodystrophy), but has a different underlying genetic cause. This form is caused by a deficiency in the saposin B enzyme rather than arylsulfatase A enzyme. This form of metachromatic leukodystrophy also causes a harmful build up of sulfatides, a type of fat, in the cells. The symptoms of this condition most commonly onsets in late infancy where symptoms appear between one and two years of age. Later childhood and early adulthood onset has been reported in this form as well. Symptoms may include a regression (reversal) of motor development and mental development, such as an inability to walk or talk. There is currently no cure for metachromatic leukodystrophy due to saposin B deficiency.

This condition is inherited or passed through families in an autosomal recessive manner. This means that two copies of the changed gene are needed to produce the symptoms. In recessive conditions, each parent is an unaffected carrier of one genetic change. Each child born to two carriers has a 25% chance of being affected. A genetic counselor can be helpful in providing a better understanding of the inheritance and risks to future pregnancies. If you or someone you know has been diagnosed with metachromatic leukodystrophy due to saposin B deficiency, contact your doctor to discuss the most current treatment options.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Metachromatic leukodystrophy due to saposin B deficiency" for support, advocacy or research.

MLD Foundation

We C.A.R.E.™ – The MLD Foundation's global mission is reflected in four areas of purpose that start with people and families ... facilitating Compassion, increasing Awareness, influencing Research, and promoting Education for metachromatic leukodystrophy. We are active in rare disease advocacy, newborn screening, registries, FDA policy, and "educate" regularly on Capitol Hill. The MLD Foundation collaborates with other leukodystrophy and lysosomal disease organizations globally. We are also quite active in global rare disease issues.

Last Updated: 13 Oct 2017

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Metachromatic leukodystrophy due to saposin B deficiency" for support, advocacy or research.

MLD Foundation

We C.A.R.E.™ – The MLD Foundation's global mission is reflected in four areas of purpose that start with people and families ... facilitating Compassion, increasing Awareness, influencing Research, and promoting Education for metachromatic leukodystrophy. We are active in rare disease advocacy, newborn screening, registries, FDA policy, and "educate" regularly on Capitol Hill. The MLD Foundation collaborates with other leukodystrophy and lysosomal disease organizations globally. We are also quite active in global rare disease issues.

http://www.MLDfoundation.org

Last Updated: 13 Oct 2017

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General Support Organizations

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General Resources

MLD 101- An Overview of MLD

A layman's introduction to MLD

Uploaded By: MLD Foundation

Updated 22 Sep 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Metachromatic leukodystrophy due to saposin B deficiency" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Metachromatic leukodystrophy due to saposin B deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.