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Disorders of Ketone Body Metabolism


Sass, Jörn Oliver; Grünert, Sarah C (2014). Disorders of Ketone Body Metabolism. In: Blau, N; Duran, Marinus; Gibson, K M; Dionisi-Vici, Carlo. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Heidelberg: Springer-Verlag Berlin, 361-371.

Abstract

Ketone body utilisation is of special importance in times of fasting/starvation or increased energy demand. However, both formation and utilisation of ketone bodies (ketogenesis and ketolysis) can be impeded by inborn errors of metabolism. In case of genetic deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase (mHMGS) or of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HMGL), the formation of ketone bodies is impaired. If one of the enzymes of ketolysis is affected, namely, succinyl-CoA:3-oxoacid CoA transferase (SCOT) or methylacetoacetyl-CoA thiolase (MAT, “β-ketothiolase”), ketones accumulate and a life-threatening ketoacidosis may result. Since treatment options allow to minimise the risk for metabolic decompensations, awareness of those diseases is important, as is information on how to treat and to prevent clinical manifestations.

Abstract

Ketone body utilisation is of special importance in times of fasting/starvation or increased energy demand. However, both formation and utilisation of ketone bodies (ketogenesis and ketolysis) can be impeded by inborn errors of metabolism. In case of genetic deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase (mHMGS) or of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HMGL), the formation of ketone bodies is impaired. If one of the enzymes of ketolysis is affected, namely, succinyl-CoA:3-oxoacid CoA transferase (SCOT) or methylacetoacetyl-CoA thiolase (MAT, “β-ketothiolase”), ketones accumulate and a life-threatening ketoacidosis may result. Since treatment options allow to minimise the risk for metabolic decompensations, awareness of those diseases is important, as is information on how to treat and to prevent clinical manifestations.

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Item Type:Book Section, not refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2014
Deposited On:07 Apr 2014 11:15
Last Modified:08 Dec 2017 05:11
Publisher:Springer-Verlag Berlin
Number:23
ISBN:978-3-642-40337-8
Publisher DOI:https://doi.org/10.1007/978-3-642-40337-8_23

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