THE ORIGINAL report of hyperlysinemia associated it with convulsions, mental retardation, delayed development, poor growth, anemia, and muscular and ligamentous asthenia; it outlined the clinical course of the patient until the age of 4½ years.1 That paper also noted the presence of parental consanguinity, outlined biochemical findings which apparently resulted from the abnormality of lysine metabolism, advanced a hypothesis to explain the clinical and biochemical manifestations, and reported the results of family screening studies. Since then two more children, relatives of the original patient, have been found with hyperlysinemia, and additional studies have been made to clarify the nature of their metabolic defect. It is the intent of this report to describe the clinical findings, to record results of further biochemical investigation, and to advance another hypothesis for the nature of the metabolic defect in hyperlysinemia.
Report of Cases
Case 1.—Patient 1 was the subject of the original case
WOODY NC, HUTZLER J, DANCIS J. Further Studies of Hyperlysinemia. Am J Dis Child. 1966;112(6):577-580. doi:10.1001/archpedi.1966.02090150121014