Homocystinuria: an observation on the inheritance of 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...

Homocystinuria due to cystathionine synthase deficiency.

Anaesthetic management of a young patient with homocystinuria.

Homocystinuria is a rare autosomal recessive genetic disease. It is caused by a deficiency in cystathionine-b-synthase leading to a defect in methionine metabolism. High levels of plasma homocysteine are associated with vascular injury via mechanisms of oxidative damage, vascular smooth muscle proliferation, promotion of platelet activation and aggregation,and disruption of normal procoagulant-...

Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine.

Pupil-block glaucoma in homocystinuria.

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...