First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder

First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder

Systemic primary carnitine deficiency (PCD) is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter activity, resulting in low serum carnitine levels and decreased carnitine accumulation inside cells. In early life, PCD is usually diagnosed...

Full description

Bibliographic Details
Main Authors: José Guevara-Campos, Lucía González-Guevara, José Guevara-González, Omar Cauli
Format: Article
Language:English
Published: MDPI AG 2019-06-01
Series:Brain Sciences
Subjects:
carnitine
autism
intellectual disability
muscle
rare disease
Online Access:https://www.mdpi.com/2076-3425/9/6/137

Internet

https://www.mdpi.com/2076-3425/9/6/137

Similar Items