Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency

Liza Squires, Bradford Betz, Jason Umfleet, Richard Kelley

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


Holocarboxylase synthetase deficiency is typically a biotin responsive disorder that presents with lactic acidosis, tachypnea, temperature instability, and shock in neonates. The primary defect in cases studied to date appears to be the decreased affinity of HCS for its substrate, biotin. Supplemental biotin can provide sufficient substrate to increase HCS enzymatic function and thereby permit biotinglation of the four carboxylase apoenzymes. We report an infant with HCS deficiencs who presented with lactic acidosis, shock, and hypertonia. Subependymal cysts were identified on cranial ultrasound and subsequently confirmed by MRI. Six months following biotin supplementation, she is developmentally normal and MRI of the brain shows complete resolution of the cysts.

Original languageEnglish (US)
Pages (from-to)267-269
Number of pages3
JournalDevelopmental medicine and child neurology
Issue number4
StatePublished - 1997
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology


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