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Galactosemia: Biochemistry, Genetics, Pathophysiology, and Developmental Aspects

  • Chapter
Biology of Brain Dysfunction

Abstract

The manifold problems emerging from studies of the disease galactosemia have stimulated investigations in many fields of medicine. The term “galactosemia” means simply “galactose in the blood.” In animals, galactosemia can be achieved by overloading the organism with this sugar by feeding a diet rich in galactose. In man, one has encountered two types of congenital disease, both called “galactosemia.” One type of hereditary galactosemia is caused by a defect in galactokinase, which catalyzes the first step in galactose metabolism. The other, more common, type is caused by a defect in galactose-1-phosphate uridylyl transferase, which catalyzes the second step of this pathway. Accumulation of free galactose, as well as its reduction product, occurs with either type of galactosemia in patients who consume normal amounts of milk. However, the more prevalent type, in which the second step in galactose metabolism is blocked also gives rise to accumulation of galactose-1-phosphate. With this type, the pathophysiology is particularly complex in that it includes mental retardation, a symptom not found in galactokinase deficiency. The pathophysiology of galactosemia has been studied extensively in young animals that are maintained on diets including abnormally high amounts of galactose. However, aside from cataract of the lens, the pathogenesis of the disease remains largely unexplained.

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Authors and Affiliations

  1. Biochemical Research Department, Massachusetts General Hospital, Boston, Massachusetts, USA

    H. M. Kalckar

  2. Department of Biological Chemistry, Harvard Medical School, Boston, Massachusetts, USA

    H. M. Kalckar

  3. National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA

    J. H. Kinoshita

  4. Childrens Hospital of Los Angeles and Department of Pediatrics, University of Southern California School of Medicine, Los Angeles, California, USA

    G. N. Donnell

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  1. H. M. Kalckar
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  3. G. N. Donnell
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Editors and Affiliations

  1. New York State Institute for Basic Research in Mental Retardation, Staten Island, New York, USA

    Gerald E. Gaull

  2. Mt. Sinai School of Medicine of the City University of New York, New York, New York, USA

    Gerald E. Gaull

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Kalckar, H.M., Kinoshita, J.H., Donnell, G.N. (1973). Galactosemia: Biochemistry, Genetics, Pathophysiology, and Developmental Aspects. In: Gaull, G.E. (eds) Biology of Brain Dysfunction. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-2667-0_2

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