Family exhibiting cerebellar-like ataxia, photosensitivity and shortness of stature - a new inborn error of tryptophan metabolism.
Two cases in a brother and sister of a previously undescribed hereditary syndrome are reported. The features, which include shortness of stature, photosensitivity and cerebellar-like ataxia, are attributed to a new inborn error of tryptophan metabolism.
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D001827:Body Height; D002524:Cerebellar Ataxia / Q000235:genetics; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D010787:Photosensitivity Disorders / Q000235:genetics; D013577:Syndrome; D014364:Tryptophan / Q000378:metabolism*
D014364:Tryptophan