Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine.

@article{Lenney1983HomocarnosinosisLO,
  title={Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine.},
  author={J. F. Lenney and S C Peppers and C M Kucera and Ottar Sjaastad},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={1983},
  volume={132 2},
  pages={157-65}
}
Patients afflicted with homocarnosinosis have elevated concentrations of homocarnosine in brain and CSF. It has been reported that they lack brain homocarnosinase. However, we have found that these patients are deficient in serum carnosinase, a dipeptidase which hydrolyzes homocarnosine about 5% as rapidly as it splits carnosine. Homocarnosinase could not be detected in normal human brain extracts after isoelectric focusing or DEAE-cellulose column chromatography. The ability of brain extracts… CONTINUE READING

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