Multiple sulfatase deficiency

Common Name(s)

Multiple sulfatase deficiency

Multiple sulfatase deficiency is an autosomal recessive inborn error of metabolism resulting in tissue accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates. The enzymatic defect affects the whole family of sulfatase enzymes; thus, the disorder combines features of metachromatic leukodystrophy ({250100}) and of various mucopolysaccharidoses (see, e.g., MPS6; {253200}). Affected individuals show neurologic deterioration with mental retardation, skeletal anomalies, organomegaly, and ichthyosis. Different types of MSD can be distinguished according to the age of onset: neonatal, late infantile (0 to 2 years), and juvenile (2 to 4 years). Neonatal MSD is the most severe form with a broad range of mucopolysaccharidosis-like symptoms and death within the first year of life. Late-infantile MSD, which includes the majority of cases, resembles late-infantile metachromatic leukodystrophy with progressive loss of mental and motor abilities and skeletal changes. There is also an attenuated form of late-infantile MSD with onset beyond the second year of life. Rare cases of juvenile-onset MSD have been reported with onset of symptoms in late childhood and slower progression ({5:Blanco-Aguirre et al., 2001}) (summary by {23:Schlotawa et al., 2011}).
 

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: 13 Jun 2014

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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: 13 Jun 2014

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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 17 free, full-text research articles on human participants. First 3 results:

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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Difficulty in recognizing multiple sulfatase deficiency in an infant.
 

Author(s): Roberto P Santos, Joe J Hoo

Journal: Pediatrics. 2006 Mar;117(3):955-8.

 

We describe the difficulty in recognizing multiple sulfatase deficiency (MSD; Online Mendelian Inheritance in Man [OMIM] database No. 272200) in an infant. MSD is a rare autosomal recessive disorder that affects the posttranslational activation of various sulfatase enzymes. It is ...

Last Updated: 2 Mar 2006

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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.