Isolated glycerol kinase deficiency in a neonate.

  title={Isolated glycerol kinase deficiency in a neonate.},
  author={Blane D. Lewis and Michael Harbord and Russell Keenan and William Carey and Ryan G Harrison and Evelyn Robertson},
  journal={Journal of child neurology},
  volume={9 1},
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… CONTINUE READING


Publications citing this paper.

Similar Papers

Loading similar papers…