[Metabolic myopathies in childhood. A review in summarized form].
In this review hereditary disorders of muscle metabolism are summarized. Defects in the glycogen metabolism, the glycolysis, the carnitine metabolism, the respiratory chain in the mitochondria and other rare defects are discussed.
D002331:Carnitine / Q000172:deficiency; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency; D002648:Child; D002675:Child, Preschool; D030401:Cytochrome-c Oxidase Deficiency; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis; D006010:Glycogen Storage Disease Type III / Q000175:diagnosis; D006011:Glycogen Storage Disease Type IV / Q000175:diagnosis; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007770:L-Lactate Dehydrogenase / Q000172:deficiency; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009132:Muscles / Q000201:enzymology; D009135:Muscular Diseases / Q000175:diagnosis*; D010732:Phosphofructokinase-1 / Q000172:deficiency; D010735:Phosphoglycerate Kinase / Q000172:deficiency; D010736:Phosphoglycerate Mutase / Q000172:deficiency; D010764:Phosphorylase Kinase / Q000172:deficiency
D007770:L-Lactate Dehydrogenase; D002334:Carnitine O-Palmitoyltransferase; D010732:Phosphofructokinase-1; D010764:Phosphorylase Kinase; D010735:Phosphoglycerate Kinase; D010736:Phosphoglycerate Mutase; D002331:Carnitine
Metabolische Myopathien im Kindesalter. Eine Ubersicht in kurzgefasster Form.