| 释义 |
DictionarySeecarnitineEncyclopediaSeeCarnitinecarnitine deficiency
carnitine deficiencya 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 developmentEncyclopediaSeec/d |