Multiple Sulfatase Deficiency
Multiple Sulfatase Deficiency
National Organization for Rare Disorders, Inc.
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.
- DOC 13 (Multiple Sulfatase Deficiency)
- Disorder of Conification 13
- Multiple Sulfatase Deficiency (DOC 13)
- Multiple Sulfatase Deficiency Syndrome
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
- Maroteaux-Lamy Syndrome (Arylsulfatase-B Deficiency; Mucopolysaccharidosis
- VI; Polydystrophic Dwarfism)
- Metachromatic Leukodystrophy (Arylsulfatase-A Deficiency; Metachromatic
- Form of Diffuse Cerebral Sclerosis; Cerebroside Sulfatase Deficiency;
- Metachromatic Leukoencephalopathy; Sulfatide Lipidosis; Sulfatidosis)
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 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".
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".
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.
Symptoms of the following disorders can resemble those of multiple sulfatase deficiency. Comparisons may be useful for a differential diagnosis:
Maroteaux-Lamy Syndrome (Arylsulfatase-B Deficiency; Mucopolysaccharidosis VI; Polydystrophic Dwarfism) is a form of mucopolysaccharidosis. These are a group of genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes, resulting in an inability to metabolize certain complex carbohydrates (mucopolysaccharides) into simpler molecules. The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of symptoms. This syndrome can occur as a severe type, an intermediate type, and a mild type. Growth retardation generally occurs from 2-3 years of age, with coarsening of facial features and abnormalities in the bones of hands and spine. Joint stiffness also occurs. The intellect is usually normal. (Choose "Maroteaux-Lamy" as your search term in the Rare Disease Database.)
Metachromatic Leukodystrophy (Arylsulfatase-A Deficiency; Metachromatic Form of Diffuse Cerebral Sclerosis; Cerebroside Sulfatase Deficiency; Metachromatic Leukoencephalopathy; Sulfatide Lipidosis; Sulfatidosis) is a hereditary disorder transmitted through autosomal recessive genes. It affects the brain and spinal cord. The disorder is characterized by progressive paralysis and dementia. It can appear in a late infantile, juvenile, or an adult form. (Choose "Metachromatic Leukodystrophy" as your search term in the Rare Disease Database.)
Ichthyosis can be a symptom of Multiple Sulfatase Deficiency. "Ichthyoses" or "Disorders of Cornification" are general terms describing a group of scaly skin disorders. They are characterized by an abnormal accumulation of large amounts of dead skin cells (squames) in the top layer of the skin. The conversion of an abnormally large number of epidermal cells into squamous cells is thought to be caused by a defect in the metabolism of skin cells known as "corneocytes" or of the fat-rich matrix around these cells. The cells can be thought of as bricks, while the matrix would be the mortar holding these cells together. (Use "Ichthyosis" as your search term in the Rare Disease Database.)
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.
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
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For information about clinical trials sponsored by private sources, contact:
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.
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.
von Figura K. Inherited disorders caused by faulty protein modification in the secretory route.
Proc. German Society for Biochemistry and Molecular Biology. 2002:2pp.
Maire I. Mucosulfatidosis. 2002:1p.
Australian Leukodystrophy Support Group Inc. Multiple sulfatase deficiency (MSD).
Australian Leukodystrophy Support Group Inc. Metachromatic Leukodystrophy (MLD).
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
Vaincre Les Maladies Lysosomales
2 Ter Avenue
National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Brookline, MA 02146-4227
Foundation for Ichthyosis & Related Skin Types
2616 N Broad Street
Colmar, PA 18915
ELA - European Association Against Leukodystrophies
2, rue Mi-les-Vignes
Laxou Cedex, 61024
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
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Last Updated: 2/25/2008
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