Histidinuria as A Result of Renal Tubular Defect: Disorder
characterized by mild mental retardation and histidinuria despite normal
blood levels. Histidine loading showed impaired intestinal absorption.
Clinical findings include myoclonic seizures, sensorineural deafness, thin
upper lips and long shallow philtrum, and short thick fingers and toes.
Radiologically, the middle phalanges are short, rounded, and abnormally
shaped. The inheritance is presumably autosomal recessive transmission.