Tier 4 — mechanistic

[Homocystinuria: effectiveness of the treatment with pyridoxine, folic acid, and betaine]

C Montero Brens, J Dalmau Serra, M L Cabello Tomás, A M García Gómez, M Rodes Monegal, A Vilaseca Busca
Anales espanoles de pediatria 1993 39(1):37-41

Bibliography

PubMed
PMID 8363149
Funding
Funding was not specified in the indexed record or accessible funding metadata.
Competing interests
A competing-interest declaration was not available in the indexed record or accessible disclosure metadata.

Study snapshot

DesignClinical case series
ModelHuman participants
Sample3 patients with homocystinuria
InterventionBetaine 6 g/day added to pyridoxine and folic acid
Duration1-2 years of treatment
EndpointsHomocysteine; Clinical response; Tolerability

What the study showed, in plain terms

Published in 1993, this source examined prescription betaine and inherited metabolic disorders. Design: Clinical case series. Sample/model: 3 patients with homocystinuria. The exposure or intervention was Betaine 6 g/day added to pyridoxine and folic acid. Follow-up or treatment period: 1-2 years of treatment.

Adding betaine produced further biochemical control after a partial vitamin response; no major organ toxicity was reported in this small series.

Three uncontrolled cases and combined treatment cannot estimate long-term risk or isolate all treatment contributions.

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Key findings

  • Adding betaine produced further biochemical control after a partial vitamin response; no major organ toxicity was reported in this small series.
  • The recorded outcome domains were Homocysteine; Clinical response; Tolerability.

What this study can and cannot tell us

  • Three uncontrolled cases and combined treatment cannot estimate long-term risk or isolate all treatment contributions.
  • A case report or series cannot estimate how often an event occurs or establish causality without alternative explanations and a suitable comparator.
  • Source basis: Indexed abstract and bibliographic data. Missing method details, funding information or participant denominators are not inferred.

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Dr. Khaled Mahmoud, MBBChCritical Care Medicine, Longevity Science & Editorial Direction Dr. Amr Yasser, PhDCardiometabolic, Musculoskeletal, Gut & Bioavailability Dr. Abdulla Mostafa, PhDCellular Senescence, Neurological, Mitochondrial & Brain-Ageing Biology