Carnitine Deficiency

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.

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

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

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

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

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.