Table 3:

Affected biochemical pathways in premutation and their association to clinical manifestations

Outcome measured	Phenotype or symptom
Increased adipate and lactate levels	Mitochondrial respiratory chain
	disorders/deficits
Increased TCA intermediates	Mitochondrial respiratory chain
	disorders/deficits
Decreased overall fatty acids levels	Depression
Decreased levels of oleic and arachidonic acids	Parkinson’s, Alzheimer’s
Decreased levels of n-3 and n-6 FA	Learning and memory function deficits
Decreased levels of n-3 over n-6 FA	Increased inflammation
Decreased levels of palmitoleic acid	Decreased axogenesis, neuronal
	differentiation, carbohydrate utilization
Increased mitochondria-derived oxidative stress	Anxiety-related disorders
Altered Glu, GHB	Anxiety-related disorders
Increased levels of sorbitol	Mood disorders
	Mitochondrial dysfunction

In Italics are clinical outcomes reported in premutation individuals.