systemic primary carnitine deficiency disease

An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.

Signs and symptoms

• Decreased circulating carnitine concentration
• Muscle weakness
• Lethargy
• Encephalopathy
• Myopathy
• Hypotonia
• Generalized hypotonia
• Failure to thrive
• Endocardial fibroelastosis
• Reduced muscle carnitine level

Also known as: carnitine transporter deficiency; carnitine uptake defect; deficiency of plasma-membrane carnitine transporter; primary carnitine deficiency; renal carnitine transport defect