Holocarboxylase synthetase deficiency is a treatable inherited disease in which the body is unable to use the vitamin biotin effectively. If left untreated, the disease can cause numerous complications. The signs and symptoms of HCLSD typically appear within the first few months of life, although the age of onset can vary. Affected infants often have difficulty feeding, breathing problems, skin rash, hair loss, and a lack of energy. It can also lead to delayed development, seizures, and coma. These medical problems may be life-threatening in some cases.
Holocarboxylase synthetase deficiency is estimated to affect between 1 in 87,000 to 1 in 100,000 people worldwide. The occurrence is higher for individuals of Scandinavian descent, with rates as high as 1 in 1,200 people from the Faroe Islands. Certain mutations are also believed to be relatively common among the Japanese population.
In most cases, biotin is the only required treatment for holocarboxylase synthetase deficiency, and affected individuals do not need to modify their diet or activity due to this condition. By taking daily supplements of biotin before symptoms occur, all symptoms of the disease can be avoided. If treatment begins after symptoms appear, some symptoms, such as skin problems and hair loss, will disappear; however, irreversible developmental deficits are possible and may require assistance from learning specialists.
Biotin supplements must be taken by mouth throughout life. This treatment is highly effective, provided a physician determines the proper dosage of biotin and adjusts that dosage over time if necessary.
Early detection and treatment with biotin supplementation may prevent, manage, and possibly reverse symptoms. With treatment, most affected individuals are expected to have normal growth and development, although some individuals may have lifelong learning problems. Without treatment, holocarboxylase synthetase deficiency can be life-threatening.
Explanations of an extensive number of genetic diseases written for the public by the U.S. government's National Institutes of Health.
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A fact sheet on holocarboxylase synthetase deficiency produced by a collaborative effort among state angencies in Alaska, California, Hawaii, Idaho, Oregon, and Washington to investigate the financial, legal, ethical, and social implications of programs that screen newborns for certain diseases.
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