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 ?
A case of secondary carnitine deficiency due to anorexia nervosa and severe liver damage.
Carnitine deficiency with valproate sodium therapy the difference by normal diet and enteral nutrition.
Secondary carnitine deficiency is present in case of kidney diseases.
On November 8, 2002, the Centers for Medicare and Medicaid Services (CMS) issued a national coverage determination that provides reimbursement for intravenous levocarnitine when used to treat carnitine deficiency in end stage renal disease (ESRD) patients (Eknoya et al.
In acid maltase deficiency, carnitine deficiency and debrancher enzyme deficiency, progressive muscle weakness, rather than exercise intolerance, is the primary symptom.
Metabolic specialists suspect that some cases of sudden infant death syndrome (SIDS) may be due to carnitine deficiency.
But one mother who had five babies lost three to carnitine deficiency before she found Dr.
Sigma-Tau Pharmaceuticals' products include Carnitor(R), an FDA-approved treatment for carnitine deficiency in dialysis patients and patients with inborn metabolic disorders.
Role of carnitine in the regulation of glucose homeostasis and insulin sensitivity: evidence from in vivo and in vitro studies with carnitine supplementation and carnitine deficiency.
Carnitine deficiency or suboptimal carnitine status would presumably lead to decreased energy production, potentially resulting in fatigue.
Moreover, some data suggest that preexisting carnitine deficiency or VPA-induced deficiency may contribute to hyperammonemic encephalopathy (4).

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