carnitine deficiency, systemic primary

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Related to CDSP: CSDP, CDSPI

carnitine deficiency, systemic primary

An autosomal recessive disorder (OMIM:212140) of fatty acid oxidation caused by defective carnitine transport. Patients present in infancy with hypoketotic hypoglycaemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy. 

Molecular pathology
Caused by defects in SLC22A5, which encodes a protein that is both an organic cation transporter and a high-affinity carnitine transporter.
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Under the leadership of two former Institute of Nutrition members and several local and multinational dietary supplement manufacturers, distributors and marketers, the CDSP has become the main vehicle for lobbying Russian authorities about regulations, making them more transparent and easy to meet with the extensive research that has long been conducted to substantiate product claims.
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