carnitine deficiency


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Related to carnitine deficiency: L-carnitine

carnitine deficiency

a condition associated with many disorders of fatty acid oxidation. Fatty acids are linked to carnitine as they are transported across the inner mitochondrial membrane; errors in this process lead to problems with energy production; patients may experience episodes of hypoglycemia or metabolic acidosis and may have encephalopathy, cardiomyopathy or skeletal muscle weakness.

carnitine deficiency

A condition caused by decreased carnitine palmityl transferase; failure of carnitine transport in kidney, muscle, fibroblasts; cobalamin deficiency; electron transfer flavoprotein deficiency; Fanconi syndrome; isovaleric acidemia; medium-chain acylCoA dehydrogenase deficiency; methylmalonic; and propionic acidemias. Patients receiving valproate for seizure disorders may develop a toxicity syndrome with associated carnitine deficiency.

Clinical findings
Myoglobinuria, renal failure, hypoglycaemia, hypotonia, hepatomegaly, hepatic coma, congestive heart failure, neurologic changes (progressive myasthenia, encephalopathy), lethargy, coma, death, cardiomegaly, cardiac arrest and impaired growth and development.

carnitine deficiency

Metabolic disease A condition caused by ↓ carnitine palmityl transferase, failure of carnitine transport in kidney, muscle, fibroblasts or cobalamin deficiency, electron transfer flavoprotein deficiency, Fanconi syndrome, isovaleric acidemia, medium chain acylCoA dehydrogenase deficiency, methylmalonic and propionic acidemias; Pts receiving valproate for seizure disorders may develop a toxicity syndrome with associated carnitine deficiency Clinical Myoglobinuria, renal failure, hypoglycemia, hypotonia, hepatomegaly, hepatic coma, CHF, neurologic changes–progressive myasthenia, encephalopathy, lethargy, coma, death, cardiomegaly, cardiac arrest, impaired growth and development

carnitine

coenzyme of fatty acid oxidation and acetyl transfer; often designated vitamin BT, due to its vitamin role in Tenebrio sp. Present in high concentrations (5% dry weight) in meat extracts.

carnitine acetyltransferase
enzyme associated with buffering of acetyl groups from acetyl CoA.
carnitine deficiency
associated with myocardial disease in dogs, particularly Boxers.
References in periodicals archive ?
Like many other infants with carnitine deficiency, at feeding time Aaron would stiffen his body and scream.
Carnitor(R) SF, the sugar-free version of levocarnitine, is appropriate for patients with carnitine deficiency for whom a sugar-free option is desirable.
Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency.
Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.
Secondary carnitine deficiency is a rare metabolic disorder usually diagnosed at birth.
Rinaldo and co-workers (19,37) reported findings of carnitine deficiency in postmortem bile samples and characterized them as a carnitine uptake disorder.
carnitine deficiency is not uncommon in patients with epilepsy;
Amyotrophic Lateral Sclerosis, Blood Cancer, Carnitine Deficiency, Multiple Sclerosis, Myasthenia Gravis are but a few.
Brielle was also diagnosed with a secondary condition called carnitine deficiency.
The consequences of primary carnitine deficiency and secondary deficiency caused by carnitine acyl dehydrogenase deficiency range from mild forms of muscle weakness (3) to severe forms of hypoglycemia and cardiomyopathy (9-11), from Reye-like syndrome (10, 12) to lipidosis, myopathy, and abnormal organic acid production due to the inability to utilize long-chain fatty acids as an energy source (1, 2, 10).
The Centers for Medicare and Medicaid Services (CMS) has announced its intent to issue a national coverage determination for intravenous levocarnitine, a pharmaceutical treatment for carnitine deficiency in End-Stage Renal Disease (ESRD) patients undergoing dialysis.
A secondary effect of the metabolic block is systemic carnitine deficiency, further compromising fatty acid metabolism.

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