[MIM 253 260]

Incidence: approximately 1/60,000 births. Autosomal recessive transmission of mutations in the BTD gene (3p25). A systematic neonatal screening is performed in developed countries. This metabolic abnormality renders the patient unable to recycle  endogenous biotin. 

Patients are classified into 3 groups according to enzymatic activity:

-        profound deficit: < 10 % activity

-        average deficit: 10-30 % activity

-        decrease in affinity of biotinidase for biocytin

In the absence of treatment, clinical signs may be insidious or variable over time, depending on the dietary biotin intake and the severity of the enzyme abnormality:

-         neurological: lethargy, seizures, ataxia, developmental delay, loss of vision and hearing

-         cutaneous: seborrheic dermatitis, alopecia, periorificial exsudative skin rash, sometimes keratoconjunctivitis

-         metabolic: chronic lactic acidosis

-         neuromuscular: spastic paraparesis, spinal demyelination, encephalopathy

-         respiratory: apnea, dyspnea

-         sometimes immune deficiency

Treatment: biotin p.os. If it is preventively started after positive screening, the disease remains asymptomatic; otherwise, early treatment permits a rapid regression of the clinical and biological signs.

Anesthetic implications: 

usual dosage of biotin the morning of surgery (check the composition of the solution in case of parenteral nutrition); if sequelae are already present, adapt the management to the clinical presentation.

References : 

• Baumgartner MR, Suormala T. 
  Biotin-responsive disorders, In Inborn metabolic diseases, Saudubray J-M, van den Berghe G, Walter JH. 5th edition, Springer 2011, p 375-84.
• Goktas U, Cegin MB, Kati I, Palabiyk O. 
  Management of anesthesia in biotinidase deficiency. 
  J Anaesthesiol Clin Pharmacol 2014; 30: 126.
• Dhansura T, Bhorkar N, Pawar P, Gandhi S. 
  Anaesthetic management in a partient with Lennox-Gastaut syndrome. 
  Indian J Anaesth 2014; 58: 238-9

Updated: September 2019