Laryngeal stridor as a leading symptom in a biotinidase-deficient patient

J Inherit Metab Dis. 1988;11(3):312-3. doi: 10.1007/BF01800381.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amidohydrolases / deficiency*
  • Biotinidase
  • Female
  • Glycine / analogs & derivatives
  • Glycine / urine
  • Humans
  • Infant
  • Lactates / blood
  • Lactates / urine
  • Larynx / abnormalities*
  • Propionates / blood
  • Valerates / urine

Substances

  • Lactates
  • Propionates
  • Valerates
  • beta-methylcrotonylglycine
  • beta-hydroxyisovaleric acid
  • Amidohydrolases
  • Biotinidase
  • Glycine