Isolated glycerol kinase deficiency in a neonate

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

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)


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
Issue number1
Publication statusPublished - 1 Jan 1994
Externally publishedYes


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