Aspartylglucosaminuria in a Puerto Rican family: Additional features of a panethnic disorder

We report on 3 Puerto Rican brothers with the clinical and laboratory findings of aspartylglucosaminuria (AGU). Their parents were first cousins. The affected sibs have the “cardinal” manifestations of AGU, including developmental disabilities, progressive “coarsening” of the face, and early onset o...

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Veröffentlicht in:	American journal of medical genetics 1988-11, Vol.31 (3), p.527-532
Hauptverfasser:	Chitayat, David, Nakagawa, Sachiko, Marion, Robert W., Sachs, Gay S, Hahm, Sue Y. E., Goldman, Harold S., Opitz, John M., Reynolds, James F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acetylglucosamine - analogs & derivatives Acetylglucosamine - urine Adolescent AGU Amidohydrolases - urine Aspartylglucosylaminase - genetics Aspartylglucosylaminase - urine autosomal recessive inheritance Biological and medical sciences Consanguinity Diseases in Twins Errors of metabolism Genes, Recessive Gonadal Dysgenesis Humans Lipids (lysosomal enzyme disorders, storage diseases) macro-orchidism Male Medical sciences Metabolic diseases Pedigree Puerto Rico - ethnology spondylolisthesis Spondylolisthesis - genetics Spondylolysis - genetics Testis - abnormalities
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