TY - JOUR
T1 - Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome
AU - Babovic-Vuksanovic, Dusica
AU - Patterson, Marc C.
AU - Schwenk, W. Frederick
AU - O'Brien, John F.
AU - Vockley, Jerry
AU - Freeze, Hudson H.
AU - Mehta, Darsbini P.
AU - Michels, Virginia V.
N1 - Funding Information:
Dr Freeze was supported by a grant NIGMS RO1 55695.
PY - 1999
Y1 - 1999
N2 - 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.
AB - 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.
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U2 - 10.1016/S0022-3476(99)70103-4
DO - 10.1016/S0022-3476(99)70103-4
M3 - Article
C2 - 10586187
AN - SCOPUS:0033505855
SN - 0022-3476
VL - 135
SP - 775
EP - 781
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 6
ER -