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

Pub. Date : 2019 Jun 13

PMID : 31200524






2 Functional Relationships(s)
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1 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. Carnitine solute carrier family 22 member 5 Homo sapiens
2 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. Carnitine solute carrier family 22 member 5 Homo sapiens