About
Biotinidase deficiency (BIOT) is an inherited genetic condition in which the body is unable to reuse and recycle the vitamin biotin. Since the body needs free biotin to break down fats, proteins, and carbohydrates effectively; individuals with BIOT are less able to process important nutrients. There are two main types of BIOT, each differing in the severity of signs — severe “profound biotinidase deficiency” and mild “partial biotinidase deficiency.” Babies who are identified through newborn screening as having BIOT and begin treatment immediately usually remain healthy with normal development. Signs of BIOT usually start within a few months after birth. In some cases, symptoms may not appear until childhood. Early signs of BIOT include seizures (epilepsy), weak muscle tone (hypotonia), trouble breathing, skin rash, hair loss, trouble balancing, and a fungal infection called candidiasis.
Condition Type:
Core Conditions
Frequency:
Biotinidase deficiency (BIOT) occurs in 1 out of every 60,000 births. The condition is most common among individuals of European descent. However, it is also reported among individuals of Turkish, Saudi Arabian, and Japanese descent.
More Information for Parents:
Also known as:
- BIOT
- BTD deficiency
- Late-Onset biotin-responsive multiple carboxylase deficiency
- Late-Onset multiple 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)