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Further Studies on Hyperlysinemia Associated With Retardation

Am J Dis Child. 1967;113(1):146-151. doi:10.1001/archpedi.1967.02090160196032.
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AT THE ANNUAL meeting of the Society for Pediatric Research in 1964, we presented two unrelated patients with persistent hyperlysinemia.1 Another case, in many respects similar to ours, was simultaneously reported by Woody.2 The present communication summarizes our previous findings and reports our most recent results.

The younger patient, the result of incest between father and daughter, was 2 years old when admitted to the hospital because of repeated pneumonitis. He was unable to keep his head erect, sit, or creep. Gross physical and mental retardation, strabismus of the eyes, undescended testicles, hypotonia of the muscles, soft skin, and electroencephalogram (EEG) compatible with petit mal, were cardinal clinical findings. Weight, length, and head circumference were all below the third percentile. This patient died late in 1965 in a mental institute from an intercurrent infection.

The older patient, a 26-year-old man, also with gross physical retardation and with an


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