Abstract:An infant with metabolic disorder can have vague presentations like repeated chest infections, feeding intolerance and failure to thrive. This may lead to a diagnostic dilemma. Detailed clinical history together with biochemical investigations are must to reach a diagnosis. Galactokinase Deficiency (GKD) has a varied presentation with some features like microcephaly, juvenile cataracts and failure to thrive. We encountered a case of GKD in an infant in which there was an absence of cataracts. Raised Immunorea… Show more
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