[Homocystinuria: effectiveness of the treatment with pyridoxine, folic acid, and betaine].
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.
Montero Brens
C
C
Departamento de Pediatría, Hospital Infantil La Fe, Valencia.
Dalmau Serra
J
J
Cabello Tomás
M L
ML
García Gómez
A M
AM
Rodes Monegal
M
M
Vilaseca Busca
A
A
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*
D006710:Homocysteine; D001622:Betaine; D005492:Folic Acid; D011736:Pyridoxine
Homocistinuria: eficacia del tratamiento con piridoxina, ácido fólico y betaína.