Homocystinuria: Absence of Cystathionine in the Brain

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Science  07 Aug 1964:
Vol. 145, Issue 3632, pp. 588
DOI: 10.1126/science.145.3632.588


Cystathionine was absent in the cerebrum of a patient with homocystinuria. This supports the theory that the enzymatic defect in homocystinuria is deficiency of cystathionine synthetase.