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People with variants in the SLC22A5 gene (often referred to as carnitine transporter deficiency) which results in carnitine deficiency can have skeletal myopathy and/or cardiomyopathy [7]
Prescription medications are available only if deemed appropriate following an online consultation with a licensed healthcare provider
This study revealed a complex metabolic situation determined by insulin and palmitate in CACT-deficient cells, and has provided insight into the functional interactions between CACT, CPT1, malonyl-CoA, and acetyl-carnitine 59
Ease symptoms by slowing antifungals, hydrating, supporting the liver, keeping bowels moving, and prioritizing rest and gentle movement
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