CYSTATHIONINURIA as an inborn error of metabolism has been described in but four patients. Clinically these people have had little in common. The first patient, reported in 1959 by Harris et al, was a 64-year-old female imbecile with bilateral talipes calcaneovalgus.1 The second was a 44-year-old man with acromegaly (probably coincidental), developmental abnormalities about the ears, and mental aberrations.2 He was subsequently found to have thrombocytopenia.3 The third was a mentally retarded 12-year-old boy described by Berlow and Efron.4 The fourth patient was a 2-year-old child with normal intelligence, thrombocytopenia, and bilateral renal calculi.3 The lack of a consistent clinical pattern indicates that the manner of expression of the clinical syndrome is not yet clear. Indeed, the aminoaciduria might be merely coincidental in all of these individuals. Further clarification of this point must await description of additional patients. Because we have at this center observed
FRIMPTER GW, GREENBERG AJ, HILGARTNER M, FUCHS F. Cystathioninuria: Management. Am J Dis Child. 1967;113(1):115–118. doi:10.1001/archpedi.1967.02090160165026
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