Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine
catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of …

Cystathionine β‐synthase (CBS) deficiency, the most common form of homocystinuria, is an
autosomal recessive inborn error of homocysteine metabolism. Treatment of B6 …

Homocysteine is an independent risk factor for arteriosclerotic disease. Deficiency of
cystathionine β-synthase (CBS) is the major cause of inherited homocysteinemia. The CBS …

Strategies for the treatment of cystathionine β-synthase (CBS) deficiency include (1)
increasing residual enzyme activity by giving pyridoxine in those patients with vitamin …

We review the evidence that in Denmark and probably certain other European countries the
number of individuals identified with homocystinuria due to homozygosity for the widespread …

Homocystinuria due to cystathionine β-synthase (CBS) deficiency, inherited as an
autosomal recessive trait, is the most prevalent inborn error of methionine metabolism. Its …

Human cystathionine β–synthase (CBS) is an S-adenosylmethionine-regulated enzyme that
plays a key role in the metabolism of homocysteine. Mutations in CBS are known to cause …

Untreated cystathionine β-synthase (CBS) deficiency in humans is characterized by
extremely elevated plasma total homocysteine (tHcy> 200 μM), with thrombosis as the major …

Cystathionine β-synthase (CBS) deficiency is a recessive genetic disorder in humans
characterized by elevated levels of total plasma homocysteine (tHcy) and frequent …

Homocystinuria (HCU) due to cystathionine β-synthase deficiency (Mudd et al 1964) was
independently described by Gerritsen and colleagues (USA) and Carson and colleagues …