Multiple carboxylase deficiency
Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency (pronounced: mul-ti-ple car-boxy-lase de-fi-cien-cy) is a rare inherited disorder of the metabolism. The condition is characterized by reduced activity of the enzymes that require the vitamin biotin as a cofactor.
Etymology
The term "Multiple Carboxylase Deficiency" is derived from the nature of the disorder. "Multiple" refers to the involvement of several enzymes, "Carboxylase" refers to the specific type of enzymes affected, and "Deficiency" indicates a lack or shortage.
Symptoms
Symptoms of Multiple Carboxylase Deficiency can vary widely, but often include skin rash, hair loss, and neurological abnormalities such as seizures, developmental delay, and hypotonia.
Causes
Multiple Carboxylase Deficiency is caused by mutations in the HLCS gene. This gene provides instructions for making an enzyme called holocarboxylase synthetase, which is responsible for attaching biotin to certain proteins called carboxylases.
Diagnosis
Diagnosis of Multiple Carboxylase Deficiency is typically made through a combination of clinical examination, laboratory testing, and genetic testing.
Treatment
Treatment for Multiple Carboxylase Deficiency typically involves dietary supplementation with biotin.
Related Terms
External links
- Medical encyclopedia article on Multiple carboxylase deficiency
- Wikipedia's article - Multiple carboxylase deficiency
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