Multiple Sulfatase Deficiency

Multiple Sulfatase Deficiency

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Multiple Sulfatase Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • DOC 13 (Multiple Sulfatase Deficiency)
  • Disorder of Conification 13
  • Multiple Sulfatase Deficiency (DOC 13)
  • Mucosulfatidosis
  • Multiple Sulfatase Deficiency Syndrome

Disorder Subdivisions

  • None

General Discussion

Multiple sulfatase deficiency is a very rare hereditary metabolic disorder in which all of the known sulfatase enzymes (thought to be seven in number) are deficient or inoperative. Major symptoms include mildly coarsened facial features, deafness, and an enlarged liver and spleen (hepatosplenomegaly). Abnormalities of the skeleton may occur, such as curvature of the spine (lumbar kyphosis) and the breast bone. The skin is usually dry and scaly (ichthyosis). Before symptoms are noticeable, children with this disorder usually develop more slowly than normal. They may not learn to walk or speak as quickly as other children.

Symptoms

Symptoms of multiple sulfatase deficiency usually start during the first or second year of life. Children with this disorder usually have coarse facial features and they are often deaf. The liver and spleen are usually enlarged. Curvature of the lower portion of the spine and an abnormal breast bone usually also occur. In addition, the skin is dry, scaly and itchy (ichthyosis). Development is usually delayed in children with this disorder. Children with multiple sulfatase deficiency may not walk normally and their speech is usually impaired.



Laboratory tests show abnormalities in cells of the bone marrow and in white blood cells. The bone behind the nasal bones (sella turcica) is J- shaped and the little bones of fingers and toes (phalanges) are broader than normal. Levels of urinary sulfatides are higher than normal. A deficiency of several enzymes (arylsulfatase A, B, and C, two steroid sulfatases and four other sulfatases) occurs. In normal concentration, these enzymes are needed to break down certain carbohydrates known as "mucopolysaccharides".

Causes

Multiple sulfatase deficiency is a hereditary disorder transmitted through autosomal recessive genes.



Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.



All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.



Symptoms are caused by a deficiency of the enzyme arylsulfatase A, B, and C, 2 steroid sulfatases, and 4 other sulfatases that are needed for the breakdown of certain carbohydrates known as "mucopolysaccharides".

Affected Populations

Multiple sulfatase deficiency is present at birth, although symptoms of this disorder don't become noticeable until the first or second year of life. It is a very rare disorder affecting males and females in equal numbers.

Standard Therapies

Treatment for the symptoms of skeletal abnormalities in multiple sulfatase deficiency is symptomatic and supportive. An orthopedist can provide treatment for curvature of the spine. Dermatologic symptoms (ichthyosis) are treated by applying skin softening (emollient) ointments, preferably plain petroleum jelly. This can be especially effective after bathing while the skin is still moist. Salicylic acid gel is another particularly effective ointment. The skin should be covered at night with an airtight, waterproof dressing when this ointment is used. Lactate lotion can also be an effective treatment.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com.

References

TEXTBOOKS

Mancini GMS, van Diggelen OP. Multiple Sulfatase Deficiency. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:484.



Hopwood JJ, Ballabio A. Multiple sulfatase deficiency and the nature of the sulfatase family. In: Scriver CR, Beaudet AL, Sly WS, et al. Eds. The Metabolic Molecular Basis of Inherited Disease. 7th ed. McGraw-Hill Companies. New York, NY; 2001:3725-32.



JOURNAL ARTICLES

Mancini GM, van Diggelen OP, Huijmans JG, et al. Pitfalls in the diagnosis of multiple sulfatase deficiency. Neuropediatrics. 2001;32:38-40.



Macaulay RJ, Lowry NJ, Casey RE. Pathological findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies. Pediatr Neurol. 1998;19:372-76.



Castano Suarez E, Segurado Rodriguez, Guerra Tapia A, et al. Ichthyosis: the skin manifestation of multiple sulfatase deficiency. Pediatr Dermatol. 1997;14:269-72.



Schmidt B, Selmer T, Ingendoh A, et al. A novel amino acid modification in the sulfatases that is defective in multiple sulfatase deficiency. Cell. 1995;82:271-78.



Rommerskirch W, von Figura K. Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs. Proc Natl Acad Sci U S A. 1992;89:2561-65.



FROM THE INTERNET

McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Entry Number; 272200: Last Edit Date; 11/17/98.



U. S. National Library of Medicine. Multi[ple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. Last Updated: 27 October, 1999.

www.nlm.nih.gov/mesh/jablonsky/syndromes/syndrome044.html



von Figura K. Inherited disorders caused by faulty protein modification in the secretory route.

Proc. German Society for Biochemistry and Molecular Biology. 2002:2pp.

www.wissenschaft-online.de/gbm/homepage/abstract_detail.php?artikel_id=233



Maire I. Mucosulfatidosis. 2002:1p.

www.orphanet/consor/cgi_bin/data/OC_data.php



Australian Leukodystrophy Support Group Inc. Multiple sulfatase deficiency (MSD).

www.vicnet.net.au/~leukomsd.html



Australian Leukodystrophy Support Group Inc. Metachromatic Leukodystrophy (MLD).

www.vicnet.net.au/~leukometa.html

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, CW2 6BG

United Kingdom

Tel: 4408452412173

Fax: 4408452412174

Email: enquiries@climb.org.uk

Internet: http://www.CLIMB.org.uk



Vaincre Les Maladies Lysosomales

2 Ter Avenue

Massy, 91300

France

Tel: 0169754030

Fax: 0160111583

Email: accueil@vml-asso.org

Internet: http://www.vml-asso.org



National Tay-Sachs and Allied Diseases Association, Inc.

2001 Beacon Street

204

Brookline, MA 02146-4227

USA

Tel: (617)277-4463

Fax: (617)277-0134

Tel: (800)906-8723

Email: info@ntsad.org

Internet: http://www.NTSAD.org



Foundation for Ichthyosis & Related Skin Types

2616 N Broad Street

Colmar, PA 18915

Tel: (215)997-9400

Fax: (215)997-9403

Tel: (800)545-3286

Email: info@firstskinfoundation.org

Internet: http://www.firstskinfoundation.org



ELA - European Association Against Leukodystrophies

2, rue Mi-les-Vignes

54521

Laxou Cedex, 61024

France

Tel: 33383309334

Fax: 33383300068

Email: ela@ela-asso.com

Internet: http://www.ela-asso.com



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Hide & Seek Foundation for Lysosomal Disease Research

6475 East Pacific Coast Highway Suite 466

Long Beach, CA 90803

Tel: (877)621-1122

Fax: (866)215-8850

Email: info@hideandseek.org

Internet: http://www.hideandseek.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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