An infant with intolerance to breast feed, vomiting and diarrhoea develops cataract. Which of the following is the most likely diagnosis?
Ans. (b) GalactosemiaRef: Kanski 7/e, p. 301Galactosemia - becomes manifest during infancy with features of failure to thrive, lethargy, vomiting and diarrhea. Reducing substance is found in urine after drinking milk.Cataract develops (oil droplet central opacity) within first few days to weeks of life. The exclusion of galactose (milk and milk products) from the diet will prevent the progression of cataract and may reverse early lens changes.
Lowe syndrome
Galactosemia
Fabry disease
Congenital hypoglycemia
Lens