ISSN:
1432-1076
Keywords:
Key words Homocystinura
;
Cystathionine β-synthase
;
Clinical variability
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Homocystinuria due to cystathionine β-synthase (CBS) deficiency is an autosomal recessive disease of sulphur amino acid metabolism. Major clinical manifestations include disorders of the eye, the skeleton, the central nervous system and the vascular system. A wide clinical spectrum of the disease has been reported. We discuss the role of genetic factors (e.g. different mutations of the CBS gene and a variable genetic background) and the importance of environmental factors (e.g. diet, vitamins, perinatal factors and drugs) in explaining the phenotypic variability observed in homocystinuria. Conclusion Homocystinuria represents a good model to explain the clinical differences frequently observed among patients affected by monogenic diseases.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/PL00014309
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