Research

Energy balance

Huntington disease patients exhibit an early systemic hypermetabolic state characterized by significantly lower plasma levels of branched-chain amino acids (BCAAs: valine, leucine, isoleucine), which correlates with weight loss and disease progression.

For individuals with Huntington's Disease, weight loss is driven by a systemic metabolic defect (hypermetabolism) rather than just low food intake. This involves the rapid breakdown of muscle protein (BCAAs) to fuel the brain. Standard nutritional advice to 'eat more' may be insufficient without addressing the underlying metabolic energy deficit. Monitoring BCAA levels could serve as a biomarker for disease progression.

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We report evidence of an early hypermetabolic state in HD... This distinction was attributable to low levels of the branched chain amino acids (BCAA), valine, leucine and isoleucine. BCAA levels were correlated with weight loss and, importantly, with disease progression...
Fanny Mochel et al. · PLoS ONE · 2007

Why this rating

The study uses rigorous metabolic screening (1H NMR, ion exchange chromatography) and controls for confounders like inflammation and endocrine dysfunction, but it is a cross-sectional observational study, not an intervention trial.

Source

Early Energy Deficit in Huntington Disease: Identification of a Plasma Biomarker Traceable during Disease Progression

Fanny Mochel et al. · PLoS ONE · 2007

DOI 10.1371/journal.pone.0000647

cross_sectional · n=53Cited 233×
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DOI resolved against Crossref · corpus check 2026-06-10

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