Huntington's Disease

Summary

Curious fatty acid desaturation patterns are found as a major feature of mild abnormalities found in this progressive neurodegenerative disease.

This content was created by the Metametrix Institute

History

This patient is a 64-year-old female.
Huntington disease (HD) is a genetic disorder of the central nervous system with symptoms usually appearing in adults within the third or fourth decade of life. Symptoms may include involuntary movements and loss of motor control. In addition, personality changes may occur, with loss of memory and decreased mental capacity. Medium-size spiny neurons slowly degenerate from excitotoxic cell death causing atrophy of the striatum.

Age

64

Gender

Female

Description of Results

The metabolic picture revealed by the ION profile shows no profound abnormalities. Lipid peroxide elevation may be due to long term excitotoxic effects on oxidative challenge to nerve membrane structures. Elevated homocysteine usually follows chronic oxidative challenge.

The fatty acid profile shows an unusual pattern suggesting increased rates of desaturation in both n-3 and n-6 families of fatty acids. Note the high ratio of ALA/EPA and of LA/DGLA with significant depletion of LA.

Poor conversion of essential fatty acids to glycine, serine and taurine may respond to increased vitamin B6. Adding vitamin B12 and folate can help lower homocysteine.

Recommendations

Support with non-essential amino acids (glycine, serine, taurine) and B-complex vitamins is indicated.

Additional sources of linoleic acid (safflower, primrose, sunflower oils) may be added as dietary supplements, but the fatty acid profile should be monitored for increased conversion to arachidonic acid that will cause a relative abundance of Class 2 eicosanoid cell regulators (pro-inflammatory).

Other Comments

Huntington's disease seems to be caused by proteins expressed specifically in spiny neurons in the brain. The metabolic consequences place stress on mitochondrial energy production in the local tissue, but the outcome does not strongly influence total body flux of intermediates examined in the ION profile.