Holocarboxylase synthetase deficiency
Overview
What is holocarboxylase synthetase deficiency syndrome?
Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. People with this condition have trouble using biotin, a vitamin that helps turn certain carbohydrates and proteins into energy for the body. Holocarboxylase synthetase deficiency is considered an organic acid condition because it can lead to a harmful buildup of organic acids and toxins in the body if it is not treated.
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.
More Overview Content
Are there other names for holocarboxylase synthetase deficiency syndrome?
How common is holocarboxylase synthetase deficiency syndrome?
What is the usual abbreviation for holocarboxylase synthetase deficiency syndrome?
How many people in the US have holocarboxylase synthetase deficiency syndrome?
How many babies are born with holocarboxylase synthetase deficiency syndrome?
Are there other names for holocarboxylase synthetase deficiency syndrome?
Holocarboxylase synthetase deficiency syndrome has also been called:
- Holocarboxylase deficiency
- HLCS deficiency
- Early-onset multiple carboxylase deficiency
- Multiple carboxylase deficiency
- Neonatal form of MCD
- Multiple co-A carboxylase deficiency
- MCD
- HCSD
How common is holocarboxylase synthetase deficiency syndrome?
Holocarboxylase synthetase deficiency syndrome is rare. It has been estimated to happen about 1 in 87,000 live births.
What is the usual abbreviation for holocarboxylase synthetase deficiency syndrome?
Holocarboxylase synthetase deficiency syndrome is often abbreviated as HCSD .
How many people in the US have holocarboxylase synthetase deficiency syndrome?
The exact number of people in the US with holocarboxylase synthetase deficiency syndrome is unknown.
How many babies are born with holocarboxylase synthetase deficiency syndrome?
Each year about 45 to 50 babies are born with holocarboxylase synthetase deficiency syndrome in the United States.
