[Vitamins in metabolic diseases]

Area of Science:

• Biochemistry
• Genetics
• Nutritional Science

Context:

• Metabolic diseases often stem from genetic defects affecting vitamin utilization.
• Understanding vitamin roles is crucial for managing inherited metabolic disorders.
• Three primary mechanisms link vitamin dysfunction to disease pathogenesis: malabsorption, metabolic errors, and vitamin-dependent syndromes.

Purpose:

• To review vitamins that interfere with inborn errors of metabolism.
• To identify specific vitamins and their corresponding treatable genetic diseases.
• To highlight the therapeutic potential of vitamins in managing metabolic disorders.

Summary:

• Vitamins can be therapeutically employed in genetic metabolic diseases via mechanisms including malabsorption, metabolic pathway errors, and apoenzyme deficiencies.
• Specific vitamins like thiamine, nicotinic acid, biotin, pyridoxine, cobalamins, folic acid, and vitamin D are discussed in relation to treatable conditions such as leucinosis, hyperlipoproteinemia, and various acidurias.
• Pharmacological doses of vitamins may be necessary when genetic conditions involve apoenzyme deficiencies, exceeding standard nutritional requirements.

Impact:

• Vitamin therapy not only corrects underlying metabolic errors but also significantly improves psycho-physical growth and central nervous system function.
• Early intervention with appropriate vitamin supplementation can ameliorate developmental delays and neurological sequelae in patients with inborn errors of metabolism.
• This review underscores the critical impact of targeted vitamin interventions in managing a spectrum of genetic metabolic diseases, offering substantial benefits beyond metabolic correction.