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Genes, crianças e pediatras: homocistinúria clássica
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ABSTRACT
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.
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Citação
Nascer e Crescer 2012; 21(1): 63-64