Neonatal diabetes mellitus with hypergalactosemia.
We report the case of a male, small-for-gestational-age newborn who presented with failure to thrive, severe fluctuation of blood glucose concentrations, and increased serum concentrations of galactose. The infant responded well to a lactose-free diet supplemented with fructose, inulin and corn starch. The metabolic disorder disappeared within 6 months. The transient course, and results of a molecular analysis of the glucose transporter 2 (Glut2) gene seem to rule out Fanconi-Bickel syndrome.
Kentrup
H
H
Department of Pediatrics, University Hospital, RWTH Aachen, Germany. hkentrup@t-online.de
Altmüller
J
J
Pfäffle
R
R
Heimann
G
G
D003920:Diabetes Mellitus / Q000097:blood* / Q000235:genetics; D003937:Diagnosis, Differential; D005198:Fanconi Syndrome / Q000175:diagnosis; D005690:Galactose / Q000097:blood*; D051273:Glucose Transporter Type 2; D006801:Humans; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000235:genetics
D051273:Glucose Transporter Type 2; D009004:Monosaccharide Transport Proteins; D005690:Galactose