Holocarboxylase Synthetase Deficiency / Multiple Carboxylase Deficiency

Holocarboxylase Synthetase (HLCS) Deficiency (or Multiple Carboxylase Deficiency) is a rare disorder of biotin metabolism. Most patients with HLCS deficiency present with symptoms in the newborn to early infantile period that include metabolic acidosis and organic aciduria, irritability, lethargy, hypotonia, seizures, coma, developmental delay and dermatitis. Nearly all patients with HLCS deficiency respond to biotin administration, however patients may differ in the level of responsiveness to biotin.

Tests Available

Forms and Documents

Test Details

HLCS
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array

Ordering

320
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81406x1
No
Yes
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Suzuki et al. (2005) Hum Mutat 26:285-290
  2. Santer et al. (2003) Mol Genet Metab 79:160-166
  3. Yang et al (2001) Hum Genet 109:526-534
  4. Dupuis et al. (1996) Hum Mol Genet 5:1011-1016