Isolated glycerol kinase deficiency in a neonate

J Child Neurol. 1994 Jan;9(1):70-3. doi: 10.1177/088307389400900118.


Glycerol kinase deficiency occurs either as a relatively benign isolated enzyme deficiency, or as part of a syndrome resulting from a microdeletion in the p21 region of the X chromosome associated with congenital adrenal hypoplasia and/or Duchenne muscular dystrophy. Developmental delay is a consistent feature of the microdeletion syndrome but not of the isolated enzyme defect. We report a case of isolated glycerol kinase deficiency in a neonate presenting with hypotonia, apnea, mild developmental delay, and glyceroluria, without evidence of adrenal insufficiency or myopathy. A mild communicating hydrocephalus was noted on magnetic resonance imaging brain scan. It is important, therefore, to exclude glyceroluria in infants being investigated for apnea and hypotonia.

Publication types

  • Case Reports

MeSH terms

  • Apnea / complications
  • Apnea / diagnosis
  • Brain / diagnostic imaging*
  • Cerebral Ventricles / abnormalities
  • Chromosome Deletion
  • Chromosomes, Human, Pair 21
  • Developmental Disabilities / complications
  • Diet Therapy
  • Glycerol Kinase / blood
  • Glycerol Kinase / deficiency*
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Muscle Hypotonia / complications
  • Muscle Hypotonia / diagnosis
  • Radiography
  • Subarachnoid Space / abnormalities
  • X Chromosome


  • Glycerol Kinase