About
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. MCD can lead to a harmful buildup of organic acids and toxins in the body. Early detection and treatment often can prevent the severe outcomes of MCD. Signs of MCD begin in infancy, usually in the first few days of life, and include poor appetite, sleeping longer or more often, tiredness, irritability, muscle weakness (hypotonia), vomiting, peeling skin rash, and hair loss (alopecia). Many of these signs may occur when a baby eats foods the body cannot break down. Symptoms can be triggered by long periods of time without eating, illnesses, and infections.
Condition Type:
Core Conditions
Frequency:
Holocarboxylase synthetase deficiency (MCD) is estimated to affect 1 out of every 87,000 people.
More Information for Parents:
Also known as:
- Holocarboxylase synthetase deficiency
- HCSD
- Holocarboxylase deficiency
- HLCS deficiency
- Early-Onset multiple carboxylase deficiency
- Multiple carboxylase deficiency
- Neonatal form of MCD
- Multiple Co-A carboxylase deficiency
Core Conditions
- Propionic Acidemia (PROP)
- Methylmalonic Acidemia (Methylmalonyl-CoA Mutase Deficiency) (MUT)
- Methylmalonic Acidemia (Cobalamin Conditions)
- Isovaleric Acidemia (IVA)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)
- 3-Hydroxy-3-Methylglutaric Aciduria (HMG)
- Holocarboxylase Synthetase Deficiency (MCD)
- Beta-Ketothiolase Deficiency (BKT)
- Glutaric Acidemia, Type I (GA-1)
- Biotinidase Deficiency (BIOT)
- Critical Congenital Heart Disease (CCHD)
- Cystic Fibrosis (CF)
- Classic Galactosemia (GALT)
- Hearing Loss or Varying Hearing Levels
- Severe Combined Immunodeficiency (SCID)
- X-Linked Adrenoleukodystrophy (X-ALD)
- Pompe
- Spinal Muscular Atrophy (SMA)
- Mucopolysaccharidosis, Type I (MPS I)
Secondary
- Citrullinemia, Type II (CIT II)
- Hypermethioninemia (MET)
- Benign Hyperphenylalaninemia (H-PHE)
- Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
- Biopterin Defect in Cofactor Regeneration (BIOPT-REG)
- Ornithine Transcarbamylase Deficiency (OTC)
- Carbamoyl Phosphate Synthetase Deficiency (CPS)
- Tyrosinemia, Type II (TYR II)
- Tyrosinemia, Type III (TYR III)