Betaine Deficiency: Causes, Symptoms, Diagnosis, and Treatment
Betaine (trimethylglycine) is a methyl donor crucial for homocysteine metabolism, liver fat metabolism, and cellular osmoregulation.
Causes
- Low dietary intake (beets, spinach, quinoa, wheat bran)
- Genetic defects (BHMT, MTHFR variants)
- Malabsorption (celiac, Crohn’s, cystic fibrosis)
- Diuretic-induced losses (thiazides)
Symptoms (Often Subtle)
- Fatigue, weakness
- Elevated homocysteine → cardiovascular risk
- Fatty liver (NAFLD)
- Neurologic: depression, cognitive changes
- Developmental delays if prenatal/infant deficiency
Diagnosis
- Plasma betaine level
- Homocysteine (elevated)
- Genetic testing if hereditary suspected
Treatment
- Dietary increase: beets, spinach, quinoa, shellfish
- Betaine anhydrous supplements (3–6 g/day typical)
- Monitor homocysteine response
Rare condition; usually secondary to other disorders. Consult metabolic specialist.
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