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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
Related
biotin-protein ligase; biotin apo-protein ligase; includes: biotin-[methylmalonyl-CoA-carboxytransferase] ligase; biotin-[propionyl-CoA-carboxylase [ATP-hydrolyzing]] ligase; holocarboxylase synthetase; HCS; biotin-[methylcrotonoyl-CoA-carboxylase] ligase; biotin-[acetyl-CoA-carboxylase] ligase (HLCS)
General
inborn error of metabolism
References
- Roth KS
eMedicine: Holocarboxylase Synthetase Deficiency
http://emedicine.medscape.com/article/944631-overview