Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle

Carnitine is needed for transfer of long-chain fatty acids across the inner mitochondrial membrane for subsequent ß-oxidation. Carnitine can be synthesized by the body and is also obtained in the diet through consumption of meat and dairy products. Defects in carnitine transport such as those caused...

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Veröffentlicht in:	Annals of nutrition and metabolism 2016-01, Vol.68 (Suppl 3), p.5-9
1. Verfasser:	Longo, Nicola
Format:	Artikel
Sprache:	eng
Schlagworte:	Autism Biosynthesis Cardiomyopathies - diagnosis Cardiomyopathies - diet therapy Cardiomyopathies - epidemiology Cardiomyopathies - metabolism Carnitine Carnitine - deficiency Carnitine - metabolism Carnitine - therapeutic use Carnitine Deficiency Disorders in Pediatrics Dairy products Deficiency Diseases - diagnosis Deficiency Diseases - diet therapy Deficiency Diseases - metabolism Denmark - epidemiology Dietary Supplements Fatty acids Genetic Testing Humans Hyperammonemia - diagnosis Hyperammonemia - diet therapy Hyperammonemia - epidemiology Hyperammonemia - metabolism Incidence Infant, Newborn Metabolism, Inborn Errors - diagnosis Metabolism, Inborn Errors - diet therapy Metabolism, Inborn Errors - genetics Metabolism, Inborn Errors - metabolism Mixed Function Oxygenases - deficiency Mixed Function Oxygenases - genetics Mixed Function Oxygenases - metabolism Muscular Diseases - diagnosis Muscular Diseases - diet therapy Muscular Diseases - epidemiology Muscular Diseases - metabolism Mutation Neonatal Screening Newborn infants Physiological aspects Prognosis Solute Carrier Family 22 Member 5 - deficiency Solute Carrier Family 22 Member 5 - genetics Solute Carrier Family 22 Member 5 - metabolism
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