| Inborn errors of ketogenesis and ketone body utilization. | |
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MedLine Citation:
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PMID: 21479626 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Ketone bodies acetoacetate and 3-hydroxy-n-butyric acid are metabolites derived from fatty acids and ketogenic amino acids such as leucine. They are mainly produced in the liver via reactions catalyzed by the ketogenic enzymes mitochondrial 3-hydroxy-3-methylglutary-coenzyme A synthase and 3-hydroxy-3-methylglutary-coenzyme A lyase. After prolonged starvation, ketone bodies can provide up to two-thirds of the brain's energy requirements. The rate-limiting enzyme of ketone body utilization (ketolysis) is succinyl-coenzyme A:3-oxoacid coenzyme A transferase. The subsequent step of ketolysis is catalyzed by 2-methylactoacetyl-coenzyme A thiolase, which is also involved in isoleucine catabolism. Inborn errors of metabolism affecting those four enzymes are presented and discussed in the context of differential diagnoses. While disorders of ketogenesis can present with hypoketotic hypoglycemia, inborn errors of ketolysis are characterized by metabolic decompensations with ketoacidosis. If those diseases are considered early and appropriate treatment is initiated without delay, patients with inborn errors of ketone body metabolism often have a good clinical outcome. |
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Authors:
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Jörn Oliver Sass |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-4-9 |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: - ISSN: 1573-2665 ISO Abbreviation: - Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-4-11 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Zentrum für Kinder- und Jugendmedizin, Labor für Klinische Biochemie und Stoffwechsel, Universitätsklinikum Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany, joern.oliver.sass@uniklinik-freiburg.de. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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