Aspects of treatment of homocystinuria: an illustrative case report.
Cystathionine beta synthase deficiency homocystinuria is a heritable disorder most common in those of Irish descent. Therapy may prevent intellectual deficiency and dislocation of the ocular lenses. A female with this condition treated from the neonatal period to late adolescence is reported, including the use of betaine and antithrombotic drugs in management.
Pullon
D H
DH
Waikato Hospital, Hamilton.
D000293:Adolescent; D005260:Female; D006712:Homocystinuria / Q000188:drug therapy*; D006801:Humans; D011736:Pyridoxine / Q000627:therapeutic use
D011736:Pyridoxine