Sucrosuria with Mental Defect and Hiatus Hernia

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Abstract
Summary: Three instances are described of the association in early childhood of sucrosuria, mental retardation and an anomaly of the lower end of the ocsophagus, thus producing the three types of congenital abnormality in the one subject—inborn metabolic error, mental defect and an anatomical abnormality. Autopsy findings in one case revealed a congenital defect in the brain, thus ruling out any hypothesis that the mental retardation might be associated with a sucrosaemia. It is concluded that the sucrosuria resulted essentially from rapid absorption of the unsplit disaccharide but technical difficulties made it impossible to investigate further the failure of splitting or its degree. The previous, scanty, literature mostly deals with similar instances, as far as the sucrosuria is concerned, of exogenous origin. Careful study of the sugars fed and subsequently passed in the urine revealed a more complicated story than that of excessive alimentary absorption of sucrose and urinary excretion. Provisional “normal” values for urinary sugars obtained by chromatography are suggested. The close association of lactose and sucrose in the diet in relation to the occurrence of sucrose in the urine seems definitely established in the cases reported. Glucose metabolism was unaffected

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