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
References in periodicals archive ?
Zeng, "Primary carnitine deficiency cardiomyopathy," International Journal of Cardiology, vol.
Carnitine deficiency is treated by avoidance of fasting and strenuous exercise, l-carnitine 25 mg/kg orally six hourly, supplementation with medium-chain triglycerides and essential fatty acids (e.g., linoleic acid, linolenic acid).
Carnitine deficiency is defined as serum free carnitine concentration <20 [micro]mol/l (below this value clinical symptoms may be present) and low total carnitine concentration [28].
After detailed analysis of the biochemical means in which carnitine is implicated, it can be concluded that carnitine supplementation does not promote weight loss and that carnitine supplementation is only recommended in secondary carnitine deficiency and some inherited inborn errors based on some important positions:
The panel developed best practice recommendations for the diagnosis and treatment of dialysis carnitine deficiency. The proceedings of the meeting, in the form of best practice recommendations, are published in the April 2003 edition of the American Journal of Kidney Diseases (Eknoyan, Latos, & Lindberg, 2003).
In acid maltase deficiency, carnitine deficiency and debrancher enzyme deficiency, progressive muscle weakness, rather than exercise intolerance, is the primary symptom.
Six months later, they said he had carnitine deficiency. Then they told us there was nothing wrong.
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.
Together, they guided its way to FDA approval for the treatment of the fatal disease in children, Carnitine Deficiency, and also for patients on renal dialysis.
Previous research has suggested that relative carnitine deficiency contributes to the metabolic dysfunction associated with septic shock.
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. Eur J Nutr.

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