Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability

Clin Chem. 2018 Dec;64(12):1785-1787. doi: 10.1373/clinchem.2018.293696.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adrenal Insufficiency / etiology*
  • Adrenal Insufficiency / metabolism
  • Child, Preschool
  • DAX-1 Orphan Nuclear Receptor / genetics
  • Developmental Disabilities / etiology*
  • Developmental Disabilities / metabolism
  • Glycerol / metabolism*
  • Glycerol Kinase / deficiency*
  • Glycerol Kinase / genetics
  • Glycerol Kinase / metabolism
  • Humans
  • Infant, Newborn
  • Intellectual Disability / etiology*
  • Intellectual Disability / metabolism
  • Male

Substances

  • DAX-1 Orphan Nuclear Receptor
  • NR0B1 protein, human
  • Glycerol Kinase
  • Glycerol