PEDIATRICS Vol. 72 No. 4 October 1983, pp. 441-449
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Sialic Acid Storage Disease with Sialuria: Clinical and Biochemical Features in the Severe Infantile Type

Roger E. Stevenson MD1, Mark Lubinsky MD1, Harold A. Taylor PhD1, David A. Wenger PhD1, Richard J. Schroer MD1, and P. M. Olmstead MD1

1 From the Greenwood Genetic Center, Greenwood, South Carolina; Clinical Genetics Center, Children's Memorial Hospital, and Department of Pathology and Laboratory Medicine, University of Nebraska Medical Center, Omaha; and Departments of Pediatrics and Biophysics, Biochemistry, and Genetics, University of Colorado Medical Center, Denver

Two unrelated infants with a new disorder characterized biochemically by elevated levels of free sialic acid in urine, serum, and cell lysates have exhibited severe mental and physical impairments since the early weeks of life. Three other biochemically diagnosed cases and two possible cases from the earlier literature are reviewed to delineate this condition. Clinical features including sparse, white hair, coarse facies, hepatosplenomegaly, profound inactivity, diarrhea, and anemia permit early diagnosis of this neurovisceral storage disease.

Key Words: sialuria • sialic acid metabolism • lysosomal storage disease • mental retardation • hypopigmentation

Submitted on November 1, 1982
Accepted on January 25, 1983




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