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Description

Gastrointestinal dysfunction in autism: parental report, clinical evaluation, and associated factors

Mutations in the major carnitine transporter, encoded by the SLC22A5 gene (also known as zwitterion/cation transporter 2 (OCTN2), are the predominant causes of primary carnitine deficiency (correctly identified as carnitine deficiency, systemic primary)

K.CafferyB.DuaH

University of Washington Center for Rare Disease Research

S.ModarressiM

Indeed, deletions or mutations of the SHANK3 gene have been found both in patients with PMS, which occur in over 50% of ASD patients [338], and in ASD patients outside the PMS