Homocystinuria

What is Homocystinuria?

Classical Homocystinuria is an inherited disorder caused by Cystathione β-synthetase deficiency resulting in mental retardation, eye problems, and risk of thrombosis. The aim of dietary management is to prevent the accumulation of methionine by means of a low methionine diet (in the UK this is achieved with the use of methionine exchanges). Protein requirements are met by supplementing the diet with a methionine free amino acid mixture, which contains cystine.

Cystine levels should be monitored and may need supplementing depending upon the patients individual tolerance. Cystine is available as a supplement from SHS.

Betaine is often used to assist in remethylation. Milder variants of Homocystinuria may be partially or totally vitamin B6 responsive. Folic acid supplementation may also be required.

Bibliography

Yap S, Naughten E. Homocystinuria due to cystathionine b-synthase deficiency in
ireland: 25 years experience of a newborn screened and treated population with
reference to clinical outcome and biochemical control. J Inher Metab Dis. 1998;21738-747.

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