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Isolated Glycerol Kinase Deficiency in a Neonate

Department of Chemical Pathology, The Women's and Children's Hospital, North Adelaide

Michael Harbord, FRACP

Department of Chemical Pathology, The Women's and Children's Hospital, North Adelaide

Ross Keenan, FRACR

Department of Radiology The Women's and Children's Hospital, North Adelaide

William Carey, PhD

Department of Chemical Pathology, The Women's and Children's Hospital, North Adelaide

Rodney Harrison, FAIMLS

Department of Paediatrics Flinders Medical Centre, Bedford Park, South Australia, Australia

Evelyn Robertson, FRACP

Department of Chemical Pathology, The Women's and Children's Hospital, North Adelaide

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. (J Child Neurol 1994;9:70-73).

Journal of Child Neurology, Vol. 9, No. 1, 70-73 (1994)
DOI: 10.1177/088307389400900118


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