Impaired Heme Binding and Aggregation of Mutant Cystathionine β-Synthase Subunits in Homocystinuria

Homocystinuria due to cystathionine synthase deficiency.

Homocystinuria due to cystathionine beta synthase deficiency.

A two year-old male child presented with cutis marmorata congenita universalis, brittle hair, mild mental retardation, and finger spasms. Biochemical findings include increased levels of homocysteine in the blood-106.62 micromol/L (normal levels: 5.90-16 micromol/L). Biochemical tests such as the silver nitroprusside and nitroprusside tests were positive suggesting homocystinuria. The patient w...

Neutral aminoaciduria in cystathionine β-synthase-deficient mice; an animal model of homocystinuria.

The kidney is one of the major loci for the expression of cystathionine β-synthase (CBS) and cystathionine γ-lyase (CTH). While CBS-deficient (Cbs(-/-)) mice display homocysteinemia/methioninemia and severe growth retardation, and rarely survive beyond the first 4 wk, CTH-deficient (Cth(-/-)) mice show homocysteinemia/cystathioninemia but develop with no apparent abnormality. This study examine...

Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.

We investigated the effect of pyridoxine administration in three patients with homocystinuria due to cystathionine synthase deficiency. The drug decreased the plasma concentration and urinary excretion of methionine and homocystine and the urinary excretion of homolanthionine and the homocysteine-cysteine mixed disulfide. Urinary cystine rose somewhat. Oral methionine tolerance tests before and...

Homocystinuria: an observation on the inheritance of cystathionine synthase deficiency.

Homocystinuria is an inborn error of the metabolism of methionine, which is associated with a deficiency of cystathionine synthase activity in liver and brain. It is inherited as an autosomal recessive trait; characteristic clinical stigmata usually include mental retardation and ectopia lentis (Carson, Dent, Field, and Gaull, I965; Schimke, McKusick, Huang, and Pollack, I965; Mudd, Finkelstein...