$Unique_ID{BRK04015} $Pretitle{} $Title{Multiple Sulfatase Deficiency} $Subject{Multiple Sulfatase Deficiency DOC 13 (Multiple Sulfatase Deficiency) Disorder of Cornification 13 (Multiple Sulfatase Deficiency) Mucosulfatidosis Multiple Sulfatase Deficiency Syndrome Sulfatidosis, Juvenile, Austin Type 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) } $Volume{} $Log{} Copyright (C) 1988, 1989, 1990 National Organization for Rare Disorders, Inc. 552: Multiple Sulfatase Deficiency ** IMPORTANT ** It is possible the main title of the article (Multiple Sulfatase Deficiency) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms DOC 13 (Multiple Sulfatase Deficiency) Disorder of Cornification 13 (Multiple Sulfatase Deficiency) Mucosulfatidosis Multiple Sulfatase Deficiency Syndrome Sulfatidosis, Juvenile, Austin Type Information on the following disorders 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) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Multiple Sulfatase Deficiency is a very rare hereditary metabolic disorder characterized by impairment of all known sulfatase enzymes. Major symptoms include coarse 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 in 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 dermatan sulfate and heparan sulfate in the urine 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. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) 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 Population 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. Related Disorders 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.) Therapies: Standard 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. Therapies: Investigational This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Multiple Sulfatase Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 National Tay-Sachs and Allied Diseases Association, Inc. 2001 Beacon St, Rm. 304 Brookline, MA 02164 (617) 277-4463 or 277-3965 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 Association Europeenne contre les Leucodystrophies 7 Rue Pasteur 54000 NANCY France For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THERAPEUTIC ACTIVITY OF LACTATE 12% LOTION IN THE TREATMENT OF ICHTHYOSIS. ACTIVE VERSUS VEHICLE AND ACTIVE VERSUS A PETROLEUM CREAM: M. Buxman, et al.; Journal Am Acad Dermatol (December 1986: issue 15(6)). Pp. 1253-1258. THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 888-889. VARIOUS SULFATASE ACTIVITIES IN LEUKOCYTES AND CULTURED SKIN FIBROBLASTS FROM HETEROZYGOTES FOR THE MULTIPLE SULFATASE DEFICIENCY (MUCOSULFATIDOSIS): Y. Eto, et al.; Pediatr Res (February 1983: issue 17(2)). Pp. 97-100. MULTIPLE DEFICIENCY OF MUCOPOLYSACCHARIDE SULFATASES IN MUCOSULFATIDOSIS: R. Basner, et al.; Pediatr Res (December 1979: issue 13(12)). Pp. 1316-1318.