Volume : IX, Issue : IV, April - 2019

CLASSICAL GALACTOSEMIA

Dr M Swetha, Dr B Rajesh

Abstract :

Galactosemia is an autosomal recessive disorder caused by deficient or absent activities of one of the three enzymes involved in the galactose metabolic pathway. The predominant form is classic type galactosemia caused by severe reduction or absence of the galactose–1–phosphate uridyl transferase (GALT) enzyme. We report on a case of classical galactosemia in which the diagnosis was masked by the presence of non–specific clinical symptoms suggesting lactose intolerance. This case exemplifies the problems faced in reaching a correct diagnosis in patients with metabolic diseases demonstrating the importance of tandem mass spectrometry in correctly identifying galactosemia which may be lifesaving as treatment simply involves instituting a galactose free diet throughout life

Keywords :

Article: Download PDF   DOI : 10.36106/ijar  

Cite This Article:

CLASSICAL GALACTOSEMIA, DR M SWETHA, DR B RAJESH INDIAN JOURNAL OF APPLIED RESEARCH : Volume-9 | Issue-4 | April-2019

Number of Downloads : 344

References :