Carnitine Deficiency

Overview

Carnitine is a natural form hydrophilic amino acid derivative, produced internal in the kidneys and liver and derived from meat and dairy products in the diet. It helps in the transfer of long-chain fatty acids into the mitochondria for beta-oxidation. The etiology of this deficiency is due to inadequate intake or inability to break down the carnitine amino acid.

Signs and Symptoms

Hepatomegaly, Elevated liver transaminases, Dyspnea, Pedal edema, Raised jugular venous pulses, Muscle weakness, Recurrent infection, Abdominal pain diarrhoea

Common Causes

Inadequate intake, Inability to metabolize carnitine due to enzyme deficiencies, Decreased endogenous synthesis of carnitine, Excess loss of carnitine, A hereditary disorder, Increased requirements for carnitine when ketosis is present or demand for fat oxidation is high, Decreased muscle carnitine levels due to mitochondrial impairment, Use of valproate

Risk Factors

Inadequate intake, Inability to metabolize carnitine due to enzyme deficiencies, Decreased endogenous synthesis of carnitine, Excess loss of carnitine, A hereditary disorder, Increased requirements for carnitine when ketosis is present or demand for fat oxidation is high, Decreased muscle carnitine levels due to mitochondrial impairment, Use of valproate

Investigation Techniques

Blood glucose, Urine Analysis, Liver function test, Creatine kinase, Coagulation test, Plasma carnitine level, Enzyme assay, Carnitine transport assay, Chest X-ray, ECG, Echocardiogram, Brain MRI

Treatment and Prevention

Avoidance of fasting and strenuous exercise, oral carnitine supplementation, Direct the therapy in secondary carnitine deficiency to replenish carnitine and treat the primary metabolic defect with specific diet and other supplements, such as riboflavin, glycine, or biotin.