Isolated glycerol kinase deficiency in a neonate

B. Lewis, M. Harbord, R. Keenan, W. Carey, R. Harrison, E. Robertson

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Abstract

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.

Original languageEnglish
Pages (from-to)70-73
Number of pages4
JournalJournal of Child Neurology
Volume9
Issue number1
DOIs
Publication statusPublished - 1 Jan 1994
Externally publishedYes

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    Lewis, B., Harbord, M., Keenan, R., Carey, W., Harrison, R., & Robertson, E. (1994). Isolated glycerol kinase deficiency in a neonate. Journal of Child Neurology, 9(1), 70-73. https://doi.org/10.1177/088307389400900118