holocarboxylase synthetase deficiency

Epidemiology

• rare

Genetics

• autosomal recessive
• associated with defect in biotin protein ligase (holocarboxylase synthetase)

Clinical manifestations

• onset occurs shortly (within hours) after birth
• tachypnea, irritability, lethargy, vomiting
• exfoliative dermatitis
• cardiogenic shock
• coma

Laboratory

• electrolytes, arterial blood gas: metabolic acidosis
• plasma lactate: lactic acidosis
• serum glucose: hypoglycemia
• urinalysis

Complications

• untreated disease results in 100% mortality

Management

• supportive care in a hospital setting
• infants respond to biotin administration
• maternal administration of biotin may reduce initial severity of symptoms
• biotin:
  • start: 10 mg PO QD
  • adult: 10-40 mg PO QD

More general terms

• inborn error of metabolism

Additional terms

• biotin-protein ligase