Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.
We describe clinical, biochemical, and molecular findings in a 2(1/2)-year-old girl with a phosphomannose isomerase deficiency who presented with severe and persistent hypoglycemia and subsequently developed protein-losing enteropathy, liver disease, and coagulopathy. Six months of therapy with mannose supplementation resulted in clinical improvement and partial correction of biochemical abnormalities.
Babovic-Vuksanovic
D
D
Department of Medical Genetics, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA.
Patterson
M C
MC
Schwenk
W F
WF
O'Brien
J F
JF
Vockley
J
J
Freeze
H H
HH
Mehta
D P
DP
Michels
V V
VV
D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics / Q000378:metabolism; D019587:Dietary Supplements; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology* / Q000378:metabolism; D008358:Mannose / Q000627:therapeutic use; D017354:Point Mutation; D017422:Sequence Analysis, DNA
D008358:Mannose