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The clinical presentation can vary widely depending on the type of mutation affecting SLC22A5 and the phenotypic manifestation of the mutation, i.e., age of onset, organ involvement, and severity of symptoms at the time of diagnosis (34)

Alzheimer's disease The metabolomic profiling of acylcarnitine molecules showed variations in serum concentrations of subjects along the continuum from cognitively healthy to affected by Alzheimer's disease (97)

(PubMed) Parvanova A, Trillini M, Podesta MA, et al
