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Copyright V. Ventruto / A. Di Luccio Genus database 4384 carnitine deficiency, myopathic type Eponyms: Inheritance: autosomal recessive Semeiological Metabolic disorder, isolated defect. Generalized progressive muscular weakness, exercise-induced rhabdomyolysis, due to in muscle fatty acid metabolism abnormalities, lipid storage, myopathy, hepatomegaly, Synthesis: cardiomyopathy, hepatic encephalopathy, infections, normal carnitine concentrations in liver and serum. Group Sub group Signs: CARDIOVASCULAR DISORDERS cardiac congenital defects cardiomyopathy mitochondrial cardiomyopathy LABORATORY DATA biochemical markers metabolic defect myelo-erythropoietic disorders haemolytic anaemia plasma electrolytes-inorganic constituents, modified functions bicarbonate, high levels plasma nonprotein-organic constituents, anomalies hypoglycemia mitochondrial fatty-acid oxidation disorders organic acids, high levels tissue, biochemical changes CPT, low activity fatty acid oxidation defect metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis mitochondrial defects urine, constituent changes myoglobinuria MUSCULAR DISEASES systemic muscular defects hypotonia, muscular weakness, muscular hypoplasia, myastenia, not including atyrophy muscular dystrophy in syndromic association muscular dystrophy, myopathy OTHERS inheritance inheritance, autosomal recessive Super group: Super aggreg. METABOLIC DISORDERS metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis Aggregations: MITOCHONDRIAL DISORDERS mitochondrial fatty-acid oxidation disorders (FATMO disorders) mitochondrial myopathies, cardiomyopathies, encephalomyopathies MUSCULAR DISORDERS muscular dystrophy, myopathy Differential diagnosis: 28483 carnitine palmitoyltransferase II deficiency, lethal infantile form 27883 carnitine-acylcarnitine translocase deficiency 29004 Cytochrome bc1 complex, deficiency 9680 fibroelastosis, endocardial 12573 hydroxyacyl-CoA dehydrogenase deficiency long chain carnitine deficiency, myopathic type Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database 27800 hydroxyacyl-CoA dehydrogenase deficiency short chain 17518 myopathy-abnormal lipid metabolism Bibliography OMIM ID: 212160 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.22852295,2007 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.2304,2007 carnitine deficiency, myopathic type Page 2 of 2
