4.4 Clinical Implications of Dysfunction

This article is currently under construction

Defective thiamine-dependent enzymes or impaired thiamine status are linked to:

• Neurodegenerative diseases – Reduced transketolase activity and mitochondrial dysfunction in Alzheimer’s, Parkinson’s.

• Diabetes complications – Thiamine loss in urine contributes to neuropathy.

• Cardiac failure – Wet beriberi mimics heart failure syndromes.

• Genetic disorders – Mutations in thiamine transporter genes (e.g., SLC19A2) cause thiamine-responsive megaloblastic anemia.