The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype of biochemical and clinical phenotype and on response to treatment

Article Abstract:

The molecular basis of cystathionine beta-synthase (CBS) deficiency has been investigated in 29 Dutch patients with homocystinuria. The patients come from 21 unrelated pedigrees. The effect of CBS genotype on clinical and biochemical phenotype and on treatment response has been studied. In follow-up I278T homozygotes responded more efficiently to homocystein-lowering treatment. Only 2 vascular events were seen after 378 patient-years of treatment, at least 28 fewer than would be expected wihout treatment. Homocystinuria from cystathionine beta synthase (CBS) deficiency is an autosomal recessive problem and the most common inborn error of methionine metabolism.

Netherlands, Cardiovascular diseases

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Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations

Article Abstract:

The pyruvate carboxylase (PC) gene has been characterized in the first identification of the human PC gene structure. Screening cDNA and the gene of those with the simple A form of PC deficiency brought out an 1828G-->A missense mutation in 11 Ojibwa and 2 Cree patients and a 2229G--> T transversion mutation in two people of Micmac origin, two brothers. Identification of common pathogenic mutations has been made and a founder effect in the Cree and Ojibwa patients has been shown. In Native Americans, or Amerindians, PC deficiency has been shown to be associated with two missense mutations.

Health aspects, Usage, Native Americans, Native North Americans, Chromosome mapping

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Functionally null mutations in patients with the cblG(ital)-variant form of methionine synthase deficiency

Article Abstract:

Functionally null mutations have been studied in patients with the cblG(ital)-variant form of methionine synthase deficiency. The mutations responsible for three cblG(ital)-variant patients, two of which were siblings, have been reported. They presented with severe developmental delay, neonatal seizures, and elevated plasma homocysteine. Four mutations, all functionally null, were found. The absence of the methionine synthase protein in the variants is the result of mutations causing premature translation termination and mRNA instability as a consequence.

Fibroblasts, Homocysteine, Megaloblastic anemia

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