Multiple carboxylase deficiency (MCD)

 

Multiple carboxylase deficiency (MCD) is a condition in which the body is unable to break down proteins and carbohydrates. People with MCD have trouble using biotin, a vitamin that helps turn certain carbohydrates and proteins into energy for the body. MCD, which can begin in early infancy, is an organic acid condition because it can lead to a harmful buildup of organic acids and toxins in the body. Some signs of MCD may include poor appetite, vomiting, irritability, and muscle weakness. Early detection and treatment can often prevent the severe outcomes of MCD.

This condition also is known as: HCSD, holocarboxylase synthetase deficiency, holocarboxylase deficiency, HLCS deficiency, early-onset multiple carboxylase deficiency, neonatal form of MCD.

To learn more about Multiple carboxylase deficiency, visit Baby's First Test: Holocarboxylase synthetase deficiency and Screening, Technology, and Research in Genetics (STAR-G): holocarboxylase synthetase deficiency. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism.