Biotinidase deficiency: metabolites in CSF

J Inherit Metab Dis. 1986;9(3):284-5. doi: 10.1007/BF01799663.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amidohydrolases / deficiency*
  • Biotinidase
  • Female
  • Humans
  • Hydroxybutyrates / cerebrospinal fluid
  • Infant
  • Lactates / cerebrospinal fluid
  • Lactic Acid
  • Multiple Carboxylase Deficiency / enzymology*
  • Propionates / cerebrospinal fluid
  • Valerates / cerebrospinal fluid

Substances

  • Hydroxybutyrates
  • Lactates
  • Propionates
  • Valerates
  • 2-hydroxyisovaleric acid
  • Lactic Acid
  • Amidohydrolases
  • Biotinidase
  • propionic acid
  • 2-hydroxybutyric acid