Isolated glycerol kinase deficiency in a neonate.
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.
Lewis
B
B
Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, Australia.
Harbord
M
M
Keenan
R
R
Carey
W
W
Harrison
R
R
Robertson
E
E
D001049:Apnea / Q000150:complications / Q000175:diagnosis; D001921:Brain / Q000000981:diagnostic imaging*; D002552:Cerebral Ventricles / Q000002:abnormalities; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21; D002658:Developmental Disabilities / Q000150:complications; D004035:Diet Therapy; D005991:Glycerol Kinase / Q000097:blood / Q000172:deficiency*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications / Q000175:diagnosis; D011859:Radiography; D013346:Subarachnoid Space / Q000002:abnormalities; D014960:X Chromosome
D005991:Glycerol Kinase