A 6 month old baby presents with bilateral cataract. A urine test is requested to suspect:
Ans. (b) GalactosemiaRef: Parson's 22/e, p. 273Laboratory investigations for the diagnosis of bilateral, non- hereditary pediatric cataractBlood testSerum biochemistry for levels of blood glucose, calcium and phosphorusRed blood cell transferase and galactokinase levelsSerology for estimating the tiers of antibody for infections such as toxoplasmosis, rubella, cytomegalovirus and herpes simplex virus (TORCH) and hepatitis B virusUrine testUrine assay for the presence of reducing substances after milk feeding (for galactosaemia)Screening for amino acids in the urine (if Lowe syndrome is suspected)
Homocystinuria
Galactosemia
Hyperlysinemia
Sulfite oxidase deficiency
Lens