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Aspartylglucosaminuria in the United States |
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| Authors: | Stefan Hreidarsson George H. Momas David L. Valle Roger E. Stevenson Harold Taylor Joseph McCarty Steven B. Coker William R. Green |
| Affiliation: | John F. Kennedy Institute, Baltimore, MD;Department of Pediatrics, The Howard Hughes Medical Institute;Wilmer Eye Institute;Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD;Walter Reed Army Medical Center, Washington, DC;Greenwood Genetic Center, Greenwood, S.C., U.S.A. |
| Abstract: | Aspartylglucosaminuria (AGU) was diagnosed in two unrelated males with progressive mental retardation, coarse facies and skeletal abnormalities. Until now, this disorder has been described in predominantly Finnish populations with only one previous case reported in the U.S. We conclude that AGU may be more common in nowFinnish populations than the number of reported cases would indicate and should be included in the differential diagnosis in patients with suspected lysosomal storage disorders regardless of their geographical or ethnic backgrounds. |
| Keywords: | Aspartylglucosaminuria 1–aspartamido-β-N-acetylglucosamine amidohydrolase con-junctival non-Finnish |