• Charles Marques LourençoEmail author


Classical Homocystinuria is an autosomal recessive and multisystemic metabolic disorder, caused mainly by mutations in cystathionine beta-synthase (CBS) enzyme involved in methionine metabolism. The frequency of CBS deficiency is variable, being reported in different ranges [1:65,000 to 1:900,000]. The age of onset and severity of symptoms can be extremely variable, ranging from severely affected children to near asymptomatic adults. Two “clinical-biochemical” phenotypes are usually described in CBS deficiency: the so-called B6-responsive homocystinuria and B6-non-responsive homocystinuria. B6-responsive patients have typically - but not always - milder symptons than the non-responsive patients since they have higher residual enzyme levels.


Homocystinuria Cystathionine beta-synthase enzyme Psychiatric complications of homocystinuria Pyridoxine treatment for homocystinuria Hyperhomocysteinemia-induced deep vein thrombosis Thrombosis in patient with homocystinuria 


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© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Neurology, Neurogenetics Unit, Clinics Hospital of Ribeirao PretoUniversity of Sao Paulo, School of Medicine of Ribeirao PretoSao PauloBrazil
  2. 2.Clinical Genetics, Centro Universitario Estacio de Ribeirao PretoSao PauloBrazil

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