Free Online Database Of Diseases, Illnesses & Ailments


Holocarboxylase synthetase deficiency

Holocarboxylase synthetase deficiency Causes

The gene locus has been mapped to band 21q22.1, with a limited number of allelic variants recognized.

Holocarboxylase synthetase deficiency Definition

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

Holocarboxylase synthetase deficiency Diagnosis

Initial studies should include the following: serum electrolyte levels; blood ammonia levels; urinalysis; and culture samples appropraite for an evaluation for sepsis.

Holocarboxylase synthetase deficiency Symptoms and Signs

The signs and symptoms of holocarboxylase synthetase deficiency generally appear within the first few months of life, but the age of onset varies. Affected infants often have a hard time 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 several of these complications. If left untreated, the disorder can result to delayed development, seizures, and coma. These medical problems may be life-threatening in a few cases.

Holocarboxylase synthetase deficiency Treatment

Because of the acute and fulminant initial presentation, treatment is almost always started in the hospital. Once treatment has begun and the acute signs and symptoms have gone away, the child may be safely discharged and observed on an outpatient basis.

Most Viewed Pages

Recent Searches

Our Visitors Ask About

Medical News