Vitamin-Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
Cécile Acquaviva1, Yann Nadjar2, Manuel Schiff3
1Inborn Error of Metabolism Unit, Biochemistry and Molecular Biology Department, Bron, France.
Journal of Inherited Metabolic Disease
|June 3, 2026
Summary
Vitamin-responsive inherited metabolic disorders (IMDs) require specific vitamin or coenzyme therapy. Early diagnosis and treatment with appropriate doses can significantly improve patient outcomes and potentially reverse symptoms.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Vitamin-dependent cofactors are crucial for metabolic reactions.
- Defects in cofactor metabolism cause inherited metabolic disorders (IMDs).
- Dietary vitamin intake is insufficient for some IMDs, necessitating supplementation.
Purpose of the Study:
- To review biochemical pathways converting vitamins to active coenzymes.
- To document known vitamin-responsive IMDs and their treatment.
- To provide guidance on diagnosis, dosing, and therapeutic benefits.
Main Methods:
- Literature review of biochemical pathways and genetic disorders.
- Compilation of data on vitamin absorption, metabolism, and cofactor formation.
- Analysis of clinical phenotypes, diagnostic biomarkers, and therapeutic responses.
Main Results:
- Detailed overview of B vitamins (B1-B12) and BH4 metabolism.
- Documentation of hereditary disorders responsive to vitamin/coenzyme therapy.
- Graded therapeutic benefits and recommended dosage ranges provided.
Conclusions:
- Early recognition of vitamin-responsive IMDs is critical.
- Timely vitamin or coenzyme therapy can alter disease trajectories.
- Systematic reporting of individual responses is essential for refining treatment.
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