title: Pregnancy-exaggerated galactosemia and congenital cataracts.
abstract: One child in a family and two children in another family had galactosemia and congenital cataract. Two of them had total soft cataracts while in one, cataract was less soft. In addition, they had mild lactosuria. The mothers of the affected children had significant lactosuria and mild galactosuria without cataracts. Fathers did not have galactosuria or lactosuria. Clinically unaffected siblings in one family had mild galactosuria and lactosuria. Pregnancy-exaggerated galactosemia was suspected in these two mothers who gave birth to children with congenital cataract. As an extension of this work, 5001 pregnant women were screened for galactose in urine just before the delivery of babies. Mild galactosuria was present in 54 (1.08%). Three children had congenital cataract and one had changes in posterior pole and cornea. Restriction of lactose by reducing intake of milk and milk products during pregnancy by mothers with galactosuria is recommended to avoid the birth of children with congenital cataract.
authors.affiliation: Biochemistry Research Department, Medical Research Foundation, Chennai, India.
authors.forename: S
authors.initials: S
authors.lastname: Ramakrishnan
authors.forename: K N
authors.initials: KN
authors.lastname: Sulochana
authors.forename: R
authors.initials: R
authors.lastname: Punitham
authors.forename: B
authors.initials: B
authors.lastname: Kar
authors.forename: K
authors.initials: K
authors.lastname: Ravishankar
authors.forename: S B
authors.initials: SB
authors.lastname: Vasanthi
authors.forename: P
authors.initials: P
authors.lastname: Lakshminarayanan
mesh_terms: D000328:Adult; D002386:Cataract / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005693:Galactosemias / Q000175:diagnosis / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007223:Infant; D007785:Lactose / Q000652:urine; D010375:Pedigree; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis*
chemical_list: D007785:Lactose