title: [Homocystinuria: effectiveness of the treatment with pyridoxine, folic acid, and betaine].
abstract: We present the results achieved with vitamin (pyridoxine and folic acid) and betaine (trimethyl-glycine) treatment of three patients with homocystinuria. Cases 1 and 2 were detected by having clinical findings suggestive of the disease (ocular and orthopedic alterations) and case 3 was diagnosed after a family metabolic screening was done. All presented a positive Brand's test and an abnormal elevation of plasma and urine homocysteine, as well as high methionine and low cystine levels in the plasma. Initially, when pyridoxine (600 mg/d) and folic acid (10 mg/d) were given for one month, a partial fall in the homocysteine levels was observed in cases 2 and 3, but not in case 1. When betaine was added (6 g/d), homocysteine disappeared from the plasma after the first month in cases 2 and 3, but only after the third month in case 1. Case 1 also showed a moderate clinical improvement in behavior and school performance. The treatment was maintained for two years in case 1, and for one year in cases 2 and 3. After betaine therapy, no disturbances were observed in the hepatic, renal and bone marrow functions, nor were there any clinically relevant ill-effects. These findings show that betaine offers a therapeutic alternative in the treatment of this disease, independent of the patient's response to pyridoxine.
authors.affiliation: Departamento de Pediatría, Hospital Infantil La Fe, Valencia.
authors.forename: C
authors.initials: C
authors.lastname: Montero Brens
authors.forename: J
authors.initials: J
authors.lastname: Dalmau Serra
authors.forename: M L
authors.initials: ML
authors.lastname: Cabello Tomás
authors.forename: A M
authors.initials: AM
authors.lastname: García Gómez
authors.forename: M
authors.initials: M
authors.lastname: Rodes Monegal
authors.forename: A
authors.initials: A
authors.lastname: Vilaseca Busca
mesh_terms: D001622:Betaine / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D004341:Drug Evaluation; D005260:Female; D005492:Folic Acid / Q000627:therapeutic use*; D006710:Homocysteine / Q000097:blood; D006712:Homocystinuria / Q000097:blood / Q000188:drug therapy*; D006801:Humans; D008297:Male; D011736:Pyridoxine / Q000627:therapeutic use*
chemical_list: D006710:Homocysteine; D001622:Betaine; D005492:Folic Acid; D011736:Pyridoxine
vernacular_title: Homocistinuria: eficacia del tratamiento con piridoxina, ácido fólico y betaína.