Holocarboxylase synthetase deficiency

Overview

What is holocarboxylase synthetase deficiency syndrome?

Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. People with this condition have trouble using biotin, a vitamin that helps turn certain carbohydrates and proteins into energy for the body. Holocarboxylase synthetase deficiency is considered an organic acid condition because it can lead to a harmful buildup of organic acids and toxins in the body if it is not treated.

The signs and symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, but the age of onset varies. Affected infants often have difficulty feeding, breathing problems, a skin rash, hair loss (alopecia), and a lack of energy (lethargy). Immediate treatment and lifelong management with biotin supplements may prevent many of these complications. If left untreated, the disorder can lead to delayed development, seizures, and coma. These medical problems may be life-threatening in some cases.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/holocarboxylase-synthetase-deficiency/overview/60278 • DATE UPDATED: 2016-10-27

References

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