HYPERLYSINEMIA WITHOUT CLINICAL FINDINGS

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Abstract
A 3 yr old asymptomatic boy with hyperlysinemia is presented. The patient''s plasma lysine levels were constantly high (685-1370 .mu.mol/l) and excessive urinary excretion of ornithine, arginine and cystine were noted. There was no detectable activity of lysine-ketoglutarate reductase nor saccharopine dehydrogenase in skin fibroblast culture. Review of the reported cases and this patient with serious biochemical defect but without symptoms indicate clinical heterogeneity in hereditary hyperlysinemia.