• 1: Home
• 2: MPS Diseases
  • 2.1: Overview of symptoms
  • 2.2: Overview of treatment
  • 2.3: Which are the MPS Diseases
    • 2.3.1: MPS I
    • 2.3.2: MPS II
    • 2.3.3: MPS III
    • 2.3.4: MPS IVA
    • 2.3.5: MPS IVB
    • 2.3.6: MPS VI
    • 2.3.7: MPS VII
    • 2.3.8: MPS IX
    • 2.3.9: ML I
    • 2.3.10: ML II and III
    • 2.3.11: ML IV
    • 2.3.12: Fucosidosis
    • 2.3.13: Mannosidosis
    • 2.3.14: Sialic Acid Storage Disease
    • 2.3.15: MSD
    • 2.3.16: AGU
    • 2.3.17: Winchester
    • 2.3.18: Geleo Physic Dysplasia
  • 2.4: Personal stories
• 3: Fabry Disease
• 4: Advocacy Support
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• 8: Research
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• 30: Terms and Conditions

Multiple Sulfatase Deficiency (MSD)

Multiple Sulfatase Deficiency (MSD) is a lysosomal storage disorder closely related to the Mucopolysaccharidoses in which all twelve of the known sulfatase enzymes are deficient or inoperative. MSD may also be called Austin's disease.

What causes MSD?

MSD is caused by the deficiency of an enzyme, Formylglycine Generating Enzyme (FGE) that is in turn responsible for activating a group of different enzymes called sulfatases. Deficiency of this enzyme results in defective functioning of all the different sulfatases. The sulfatases are a group of lysosomal enzymes that are responsible for breaking down and thus recycling complex sulphate containing sugars from both lipids and mucopolysaccharides. The lipids that contain these sulfated sugars are critical for normal brain development and function. Individuals affected with MSD experience similar problems as children affected with leucodystrophy and mucopolysaccharidosis.

Does MSD affect individuals differently?

MSD, like most MPS and related disorders, is very variable and there is a wide spectrum of severity. There are a whole range of possible symptoms but affected individuals may not experience all of them.

How common is MSD?

MSD is one of the rarest forms of MPS with one child born on average every 4-5 years in the United Kingdom.

How is MSD inherited?

MSD is an autosomal recessive disease and is caused by mutations in the SUMF1 gene that encodes for the FGE enzyme; both parents must carry the same defective gene and each pass this same defective gene to their child. Where both parents are carriers of the MSD gene there is a 25% (1:4) chance of having an affected child with each pregnancy. There is a 50% (1:2) chance of a child receiving only one copy of the defective gene and therefore being a carrier.

A carrier will not be affected but can pass the defective gene to his/her offspring. The remaining 25% (1:4) will be neither affected nor a carrier. Using information from an affected individual's DNA, it may be possible to determine whether brothers and sisters are carriers of, or affected by, MSD.

All families of affected children should seek further information from their doctor or from a genetic counsellor before planning to have more children. There is a more detailed explanation of this complex subject in a booklet available from the MPS Society on the Pattern of Inheritance in MPS diseases. Please visit our Information Resource section.

Can you test for MSD in pregnancy?

If you have a child with MSD it is possible to have tests during any subsequent pregnancy to find out whether the foetus is affected. It is important to contact your doctor as soon as you suspect that you may be pregnant if you wish for tests to be arranged. Both amniocentesis and chorionic villus sampling can be used to diagnose MSD in utero.

Genetic counselling

All parents of children with a lysosomal storage disease should consider asking for genetic counselling before having other children. The counsellor should be able to provide non-directive advice on the risk to close relatives, reproductive choices available and to suggest whether the wider family should be informed.

Further information

There is a detailed fact sheet on MSD produced by the MPS Society in collaboration with parents and doctors drawing on their experience and with reference to medical literature. The fact sheet includes detailed information on the presentation and clinical management of the disease and treatment options available. Please visit our Information Resource section.