Multiple sulfatase deficiency

Common Name(s)

Multiple sulfatase deficiency, Austin's disease

Multiple sulfatase deficiency or Austin's disease is a rare inherited lysosomal disorder (See: Lysosomal disorders) that primarily affects the brain, skin, and skeleton. This condition can be broken into three subtypes based on the age of onset: neonatal, late-infantile, and juvenile.

Neonatal is the most severe form and symptoms appear shortly after birth or within the first month of life. It is characterized by deterioration of the nervous system (leukodystrophy), developmental delays, dry skin (ichthyosis), excessive hair growth (hypertrichosis), an abnormally curved spine (scoliosis) and other bony differences seen on x-rays, hearing loss, and heart problems. The late-infantile form is the most common form. Typically in the late-infantile form, the child expresses normal cognitive development early in life, but will progressively lose mental abilities and motor development. The child may also have ichthyosis, skeletal abnormalities, and coarse facial features. The juvenile form is the most rare form with onset occurring in mid-late childhood. Again, early mental development is normal but progressively worsens over time though slower than in other forms. Ichthyosis of the skin is common. In all forms of multiple sulfatase deficiency, life expectancy is shortened but is variable depending upon how quickly the symptoms worsen. There is no cure, but research is underway and treatment is based on symptoms.

Multiple sulfatase deficiency 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.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Multiple sulfatase 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: 1 May 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Multiple sulfatase 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: 1 May 2015

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General Support Organizations

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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 "Multiple sulfatase deficiency" returned 15 free, full-text research articles on human participants. First 3 results:

Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.
 

Author(s): Lars Schlotawa, Karthikeyan Radhakrishnan, Matthias Baumgartner, Regula Schmid, Bernhard Schmidt, Thomas Dierks, Jutta Gärtner

Journal: Eur. J. Hum. Genet.. 2013 Sep;21(9):1020-3.

 

Multiple sulfatase deficiency (MSD) is a rare inborn error of metabolism affecting posttranslational activation of sulfatases by the formylglycine generating enzyme (FGE). Due to mutations in the encoding SUMF1 gene, FGE's catalytic capacity is impaired resulting in reduced cellular ...

Last Updated: 16 Aug 2013

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SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
 

Author(s): Lars Schlotawa, Eva Charlotte Ennemann, Karthikeyan Radhakrishnan, Bernhard Schmidt, Anupam Chakrapani, Hans-Jürgen Christen, Hugo Moser, Beat Steinmann, Thomas Dierks, Jutta Gärtner

Journal: Eur. J. Hum. Genet.. 2011 Mar;19(3):253-61.

 

Multiple Sulfatase Deficiency (MSD) is caused by mutations in the sulfatase-modifying factor 1 gene encoding the formylglycine-generating enzyme (FGE). FGE post translationally activates all newly synthesized sulfatases by generating the catalytic residue formylglycine. Impaired FGE ...

Last Updated: 17 Feb 2011

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Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.
 

Author(s): Alessandro Fraldi, Ester Zito, Fabio Annunziata, Alessia Lombardi, Marianna Cozzolino, Maria Monti, Carmine Spampanato, Andrea Ballabio, Piero Pucci, Roberto Sitia, Maria Pia Cosma

Journal: Hum. Mol. Genet.. 2008 Sep;17(17):2610-21.

 

Sulfatase modifying factor 1 (SUMF1) encodes for the formylglicine generating enzyme, which activates sulfatases by modifying a key cysteine residue within their catalytic domains. SUMF1 is mutated in patients affected by multiple sulfatase deficiency, a rare recessive disorder in ...

Last Updated: 14 Aug 2008

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Multiple sulfatase deficiency" returned 1 free, full-text review articles on human participants. First 3 results:

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
 

Author(s): Thomas Dierks, Lars Schlotawa, Marc-André Frese, Karthikeyan Radhakrishnan, Kurt von Figura, Bernhard Schmidt

Journal: Biochim. Biophys. Acta. 2009 Apr;1793(4):710-25.

 

Multiple sulfatase deficiency (MSD), mucolipidosis (ML) II/III and Niemann-Pick type C1 (NPC1) disease are rare but fatal lysosomal storage disorders caused by the genetic defect of non-lysosomal proteins. The NPC1 protein mainly localizes to late endosomes and is essential for cholesterol ...

Last Updated: 30 Mar 2009

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.