Holocarboxylase synthetase deficiency

Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, which is a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.

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.

Other names

Biotin-(propionyl-CoA-carboxylase) ligase deficiency; Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency; Early-onset biotin-responsive multiple carboxylase deficiency; Early-onset combined carboxylase deficiency; HLCS deficiency; Infantile multiple carboxylase deficiency

Inheritance pattern

Autosomal recessive

Related genes

HLCS

Source: MedlinePlus Genetics, U.S. National Library of Medicine.