Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion

J Pediatr. 1986 Feb;108(2):189-92. doi: 10.1016/s0022-3476(86)80980-5.

Abstract

We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal insufficiency, intermittent hypoglycemia, spasticity, psychomotor retardation, and growth delay. His mother also has this deletion in an X chromosome. From our findings, we propose that the human glycerol kinase locus and the human X-linked adrenal hypoplasia locus are in the Xp21 band.

Publication types

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

MeSH terms

  • Adrenal Insufficiency / genetics*
  • Child
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Mapping
  • Female
  • Glycerol / urine
  • Glycerol Kinase / deficiency*
  • Glycerol Kinase / genetics
  • Humans
  • Lymphocytes / ultrastructure
  • Male
  • Muscular Dystrophies / genetics*
  • Pedigree
  • Phosphotransferases / deficiency*
  • Sex Chromosome Aberrations / genetics*
  • X Chromosome*

Substances

  • Phosphotransferases
  • Glycerol Kinase
  • Glycerol