Spongy degeneration of the white matter of the central nervous system associated with hyperglycinuria

AUTOR(ES)

Rushton, D. I.

RESUMO

Five infants from two families with the clinical features of hyperglycinaemia and hyperglycinuria are described. In four of these cases spongy degeneration of the central nervous system is associated with lipid-filled glial cells and retarded myelination. The origin of these changes is discussed and the relationship of the lesions to the metabolic defect is reviewed. The importance of such cases in the understanding of the normal metabolism of the nervous system is stressed.

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