Abstract

MARTINS, Esmeralda; OLIVEIRA, Teresa  and  BANDEIRA, Anabela. Genes, crianças e pediatras. Nascer e Crescer [online]. 2012, vol.21, n.1, pp.63-64. ISSN 0872-0754.

Homocystinuria is an autosomal recessive disease due to cystathionine-synthase deficiency, with the gene CBS being located in chromosome 21. In its typical presentation the eye, skeleton, central nervous system, and vascular system are all involved. The patient is normal at birth and in non-treated patients tall stature and ectopia lentis may be the first symptoms, as in the case we present.

        · text in Portuguese     · Portuguese ( pdf )