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..
The SLC22A5 database currently has 122 total entries.
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