Homocysteine and cysteine loads in patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B-6

Clinica Chimica Acta; International Journal of Clinical Chemistry
D K RassinG E Gaull


The metabolic response of patients with homocystinuria due to cystabhionine synthase deficiency to oral loads of homocysteine indicates: that even severely affected patients with homocystinuria have pools of cystine in their tissues; that control of sulfur amino acid metabolism favors increased concentrations of methionine rather than homocystine in the plasma; and that even patients who apparently are not B-6-responsive respond differently to the loads of homocysteine when challenged during B-6-treatment compared with their response before B-6 treatment. Loading tests with homocysteine indicate that B-6 treatment be of some benefit even in individuals who do not have an obvious biochemical response to such therapy.


Dec 1, 1975·Journal of Neurochemistry·J A Sturman, G E Gaull
Feb 1, 1970·Neuropädiatrie·B HagbergK Bensch
Feb 1, 1967·Nihon Shonika Gakkai zasshi. Acta paediatrica Japonica·H HaraguchiK Kono
Mar 27, 1964·Science·S H MuddL LASTER

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