ARUP Online Scientific Resource

Primary Carnitine Deficiency and SLC22A5

Primary carnitine deficiency or carnitine uptake defect (CUD; OMIM#212140) is an autosomal recessive disorder of fatty acid oxidation due to defective OCTN2 (organic cation transporter novel 2 carnitine transporters). OCTN2 is encoded by the fifth member of the solute carrier family 22 of organic cation transporters (SLC22A5; genomic sequence: NC_000005.8; mRNA: NM_003060.2; protein: NP_003051.1). Affected patients can present with hypoglycemia leading to loss of consciousness, liver failure, hepatomegaly, cardiomyopathy, an enlarged heart, and/or muscle weakness.

The aim of this database is to record all SLC22A5 variations and any clinical evidence or functional studies that classify a variant as a mutation or benign. We hope to serve as a resource and depository of novel mutations and polymorphisms for researchers and clinical laboratories testing this gene.

Full gene sequence analysis for the SLC22A5 gene is offered as ARUP test 0051682.

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The OCTN2 database currently archives 86 total entries.