[Torsten-Sjögren syndrome].
The Torsten -Sjögren-syndrome is the combination of hereditary cataract associated with impaired central nervous coordination, mental retardation and hyperaminoacidurea . This recessive inheritable disease is due to an alteration of the aminoacidmetabolism also present in the not manifestly affected parents. In addition, the presented case exhibited an anal atresia with perinatal fistula. The pediatric and ophthalmologic aids have been started early. According to the etiology a genetic counceling is necessary.
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000596:Amino Acids / Q000652:urine*; D002386:Cataract / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics*; D013577:Syndrome
D000596:Amino Acids
Das Torsten-Sjögren-Syndrom.