Present in infancy (fever, vomiting, growth
failure, and rickets). Later patients present with dwarfism, protuberant
abdomen, hepatomegaly, moon-shaped face, and fat deposition about the
shoulders and abdomen. Emergence of the teeth and development of puberty are
retarded. Fractures and pancreatitis are complications. Rickets and
osteoporosis later in life are constant features. Glomerular filtration rate
is normal or low normal, and there is no progression to glomerular
insufficiency or deterioration of tubular defects. Polyuria, probably a
result of osmotic diuresis, is a constant finding. Clinical management by
symptomatic replacement treatment (water, electrolytes, and vitamin D,
restriction of galactose, a diabetes mellitus-like diet presented in
frequent small meals with adequate caloric intake). Administration of
uncooked cornstarch has been reported to be beneficial for promoting
growth. Few patients reported still alive in their 50s.