Patients with homocystinuria have several connective tissue manifestations, the most severe being atherosclerosis. Furthermore, elevated plasma homocysteine concentrations correlate with atherosclerosis without other features of homocystinuria [1]. Homocysteine has been shown to interfere with collagen cross-linking, although the exact biochemical mechanism is unclear [2]. Moreover, the serum l...

Hyperhomocysteinaemia is associated with an increased risk of atherosclerotic vascular disease and thromboembolism, in both men and women. A variety of conditions can lead to elevated homocysteine levels, but the relation between high levels and vascular disease is present regardless of the underlying cause. Pooled data from a large number of studies demonstrate that mild hyperhomocysteinaemia ...

1 CBS1 from Magnaporthe grisea is a structural and functional homolog of the 2 cystathionine beta synthase (CBS) gene from Saccharomyces cerevisiae. Our studies 3 indicated that M. grisea can utilize homocysteine and methionine through a CBS4 independent pathway. Results also revealed responses of M. grisea to homocysteine that 5 are reminiscent of human homocystinuria. 6

CBS1 from Magnaporthe grisea is a structural and functional homolog of the cystathionine beta-synthase (CBS) gene from Saccharomyces cerevisiae. Our studies indicated that M. grisea can utilize homocysteine and methionine through a CBS-independent pathway. The results also revealed responses of M. grisea to homocysteine that are reminiscent of human homocystinuria.

The presentation of cerebral venous sinus thrombosis may be acute or chronic with a progressive clinical course. The diagnosis can be challenging, and there are several clinical syndromes associated with the disease. It is also an uncommon but recognised complication of homocystinuria. We describe a case where early anticoagulation, together with dietary intervention, was associated with a favo...

In recent years the amino acid homocysteine has achieved the status of an important factor in vascular disease, diseases of aging, and other fundamental processes in biology and medicine. After its discovery in 1932, homocysteine was characterized as an important intermediate in methionine metabolism. Little was known about its biomedical significance until 1962, when children with mental retar...

Homocystinuria is an autosomal recessive disorder usually caused by deficiency of cystathionine ␤-synthase, leading to grossly increased plasma and urine concentrations of homocysteine. There is considerable evidence that early detection and treatment can prevent the clinical consequences of the enzyme deficiency (1, 2); therefore, screening for the disorder has been advocated (1). Many cases o...

HOMOCYSTINURIA is an inborn error of metabolism due to deficiency of the enzyme cystathionine synthetase. This results in an increased excretion of homocystine in the urine and raised homocystine and methionine levels in the blood and cerebrospinal fluid. Clinically there is a picture of ectopia lentis, due to zonular degeneration, skeletal changes, fine fair hair, shuffling gait, mental retard...

A boy aged 8i years presented with a 2-week history of an irritable bloodshot left eye after being injured by a snowball. The eye was injected and there was an area of corneal oedema where the lens was in contact with the posterior corneal surface. The lens was dislocated antero-inferiorly and the intraocular pressure appeared to be raised on digital examination. Externally the other eye appear...