Tier 4 — mechanistic

Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria

Rani H Singh, Warren D Kruger, Liqun Wang, Marzia Pasquali, Louis J Elsas
Genetics in medicine : official journal of the American College of Medical Genetics 2004 6(2):90-95

Bibliography

PubMed
PMID 15017331
DOI
10.1097/01.gim.0000117334.84388.f4
Funding
Indexed grant support: 1K23-RR15530-01 — NCRR NIH HHS — United States; HL57299-01 — NHLBI NIH HHS — United States; M01-RR00039 — NCRR NIH HHS — United States. The indexed list may not contain the complete funding declaration.
Competing interests
A competing-interest declaration was not available in the indexed record or accessible disclosure metadata.

Study snapshot

DesignClinical case series
ModelHuman participants
Sample5 patients with B6-nonresponsive homocystinuria
InterventionBetaine added after optimized methionine restriction
DurationClinical metabolic follow-up
EndpointsHomocysteine; Methionine; Metabolic control

What the study showed, in plain terms

Published in 2004, this source examined prescription betaine and inherited metabolic disorders. Design: Clinical case series. Sample/model: 5 patients with B6-nonresponsive homocystinuria. The exposure or intervention was Betaine added after optimized methionine restriction. Follow-up or treatment period: Clinical metabolic follow-up.

Adding betaine lowered total homocysteine without a significant change in mean methionine in these patients.

Only five patients and no randomized control; benefit depends on concurrent dietary management.

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Key findings

  • Adding betaine lowered total homocysteine without a significant change in mean methionine in these patients.
  • The recorded outcome domains were Homocysteine; Methionine; Metabolic control.

What this study can and cannot tell us

  • Only five patients and no randomized control; benefit depends on concurrent dietary management.
  • 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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Editorial review

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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