79411-5

LOINC code 79411-5 identifies "Creatine transport protein [Enzymatic activity/mass] in Fibroblast by Creatine uptake assay". Creatine uptake via the creatine transport protein is determined by measuring the incorporation of creatine into fibroblasts. Decreased levels are associated with mutations in the SLC6A8 gene, which encodes the creatine transporter protein. The defect is clinically manifest in muscles cells, leading to muscle weakness. Creatine uptake is effected in many cell types, including fibroblasts, which are easy to collect. Therefore fibroblasts can be used as indicators cells for the creatine uptake defect.

This code measures Creatine transport protein in Fibroblasts. It belongs to the CHEM class in the LOINC classification.

LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.