Holocarboxylase synthetase deficiency


Type of disease: Rare conditions

Holocarboxylase synthetase deficiency (MCD) is a condition in which the body is unable to break down proteins and carbohydrates. People with this condition have trouble using biotin, a vitamin that helps turn certain carbohydrates and proteins into energy for the body. It affects one out of every 87,000 people. Signs of MCD usually begin within the first days of life, and include poor appetite, vomiting, tiredness, weak muscle tone, skin rash, and hair loss. Babies with holocarboxylase synthetase deficiency (MCD) need to take biotin supplements to replace the natural biotin that is not working correctly. The supplements will keep the baby from experiencing any of the earlier listed symptoms, and may also reverse any symptoms that have already appeared. With biotin supplements, people with MCD can live normal, healthy lives. Many babies are screened to see if they may be affected by MCD at birth, but the conditions included in newborn screening vary by state by state. For more information, visit Baby’s First Test.

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