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• W2022506887 abstract "Abstract 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." @default.
• W2022506887 created "2016-06-24" @default.
• W2022506887 creator A5052370546 @default.
• W2022506887 date "2011-04-09" @default.
• W2022506887 modified "2023-10-03" @default.
• W2022506887 title "Inborn errors of ketogenesis and ketone body utilization" @default.
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• W2022506887 doi "https://doi.org/10.1007/s10545-011-9324-6" @default.
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