Workup of the Patient with Lactic Acidemia: Mitochondrial Disease View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2017

AUTHORS

William L. Nyhan , Stefan Kölker , Georg F. Hoffmann

ABSTRACT

Genetically determined causes of lactic acidemia fall into two categories: abnormalities in gluconeogenesis and defects of oxidative phosphorylation or mitochondrial disease. This distinction is important because management and prognosis are different. First of all, factitious and secondary elevations of lactic acid must be excluded, which are more common, and even D-lactic acidemia. For the evaluation of energy metabolism, lactate should be determined repeatedly throughout the day (especially before and after meals). Postprandial rise or fall in lactate gives important information. Definitive diagnosis is documented by deficiencies in activity of a growing group of enzymes and mutations in DNA, first of mitochondrial and lately also of nuclear DNA. More... »

PAGES

95-99

References to SciGraph publications

Book

TITLE

Inherited Metabolic Diseases

ISBN

978-3-662-49408-0
978-3-662-49410-3

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-3-662-49410-3_14

DOI

http://dx.doi.org/10.1007/978-3-662-49410-3_14

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1051217450


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