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Aspartylglucosaminuria in the United States
Author(s) -
Hreidarsson Stefan,
Momas George H.,
Valle David L.,
Stevenson Roger E.,
Taylor Harold,
McCarty Joseph,
Coker Steven B.,
Green William R.
Publication year - 1983
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1983.tb01977.x
Subject(s) - ethnic group , differential diagnosis , medicine , pediatrics , demography , pathology , political science , sociology , law
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.