pediatrics
Galactosemia
Galactose 1 phosphate uridyl transferase deficiency
) develop, as does renal dysfunction (eg, proteinuria, aminoaciduria, Fanconi syndrome), leading to Metabolic Acidosis and edema. Without treatment, children remain short and develop cognitive, speech, gait, and balance deficits in adolescence; many also have cataracts, osteomalacia (caused by hypercalciuria), and premature ovarian failure. Patients with the Duarte variant have a much milder phenotype. 