Family Exhibiting Cerebellar-Like Ataxia,Photosensitivity and Shortness of Stature - a New Inborn Error of Tryptophan Metabolism 1

Abstract

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.