Isolated glycerol kinase deficiency in a neonate.

@article{Lewis1994IsolatedGK,
  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},
  year={1994},
  volume={9 1},
  pages={70-3}
}
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

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