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.
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.
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