Diseases
carnitine deficiency
For healthcare professionals — reference only. This page is a brief summary, not medical advice and not a substitute for official labeling or clinical judgement. Always verify before prescribing or dispensing.
Overview
Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy.
Symptoms
- decreased or floppy muscle tone or muscle weakness.
- tiredness (fatigue)
- delayed movement (motor) development.
- irritability.
- poor feeding in a baby.
Causes
- carnitine deficiency may occur in response to a genetic mutation in the protein responsible for bringing carnitine into the cell (primary carnitine deficiency), or it may occur secondary to other metabolic disorder
Risk factors
- liver disease.
- kidney disease, especially with dialysis.
- digestive disease that causes poor absorption.
Diagnosis
- blood test.
- signs and symptoms
Medicines used
Frequently asked questions
What is carnitine deficiency?
Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy.
What are the symptoms of carnitine deficiency?
decreased or floppy muscle tone or muscle weakness., tiredness (fatigue), delayed movement (motor) development., irritability., poor feeding in a baby.
What causes carnitine deficiency?
carnitine deficiency may occur in response to a genetic mutation in the protein responsible for bringing carnitine into the cell (primary carnitine deficiency), or it may occur secondary to other metabolic disorder
Which medicines are used for carnitine deficiency?
l-carnitine
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