Ketone body metabolism and its defects

  title={Ketone body metabolism and its defects},
  author={Toshiyuki Fukao and Grant A Mitchell and J{\"o}rn Oliver Sass and Tomohiro Hori and Kenji E. Orii and Yuka Aoyama},
  journal={Journal of Inherited Metabolic Disease},
Acetoacetate (AcAc) and 3-hydroxybutyrate (3HB), the two main ketone bodies of humans, are important vectors of energy transport from the liver to extrahepatic tissues, especially during fasting, when glucose supply is low. Blood total ketone body (TKB) levels should be evaluated in the context of clinical history, such as fasting time and ketogenic stresses. Blood TKB should also be evaluated in parallel with blood glucose and free fatty acids (FFA). The FFA/TKB ratio is especially useful for… 
Recurrent ketoacidosis: Is it a ketone metabolism disorder?
It was seen that decompensation attacks developed after poor feeding, vomiting and infections such as gastroenteritis, and ketone metabolism disorders should be kept in mind in the case of unexplained metabolic acidosis attacks.
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency
T2 deficiency should be considered in patients with severe metabolic acidosis, even in regions where NBS for T2 deficiency is performed, because some T2-deficient patients have been missed by NBS.
The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders
S DL-3-OHB has been utilised in multiple acyl co A dehydrogenase deficiency (MADD) in cases with acute neurological and cardiac compromise with long-term data awaiting publication.
Hyperketonemia and ketosis increase the risk of complications in type 1 diabetes.
3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) Lyase Deficiency
A 3-month-old girl presented with clinical symptoms of vomiting and drowsiness and was diagnosed with HMG-CoA lyase deficiency, one of the disorders that should be considered in the presence of non-ketotic hypoglycemia, metabolic acidosis, and hyperammonemia.
Disturbed bovine mitochondrial lipid metabolism: a review
Assuming that liver carnitine concentrations might limit hepatic fatty acid oxidation capacity in dairy cows, further study of the role of acyl-CoA dehydrogenases and/or riboflavin in bovine ketosis is warranted.
Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives
Newborn metabolic screening enables the early detection of MCAD deficiency in many countries worldwide and can be detected with a high degree of sensitivity in the newborns by tandem mass spectrometry.
Succinyl-CoA: 3-Ketoacid CoA-Transferase Deficiency in a Saudi Girl
This is the first Saudi child with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency case report as searched in the literature, and highlights the importance of suspecting SCOT deficiency in the differential diagnosis of pediatric metabolic ketoacidosis in preventing life-threatening of severe Metabolic keto Acidosis.
Measuring ketone bodies for the monitoring of pathologic and therapeutic ketosis
Ketone body measurement is relatively inexpensive and can provide metabolic insights to help guide disease management and optimize weight loss.
Remodeling of energy metabolism by a ketone body and medium-chain fatty acid suppressed the proliferation of CT26 mouse colon cancer cells
It is suggested that treatment with 3-HBA and/or LAA during glucose starvation may reprogram energy metabolism and decrease the proliferation of cancer cells.


Inborn errors of ketogenesis and ketone body utilization
  • J. Sass
  • Biology, Chemistry
    Journal of Inherited Metabolic Disease
  • 2011
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 inbornerrors of ketone body metabolism often have a good clinical outcome.
Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase.
Fasting is accompanied by a decrease in the availability of glucose for energy use in peripheral tissues and, consequently, an increased reliance of these tissues on the availability of ketone bodies
Pathways and control of ketone body metabolism: on the fringe of lipid biochemistry.
Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency
The diagnosis of mitochondrial HMG-CoA synthase deficiency was confirmed on genotyping, revealing two novel mutations: c.614G > A (R188H and c.971T > C (M307T) and the possible effects of these mutations on enzyme activity are discussed.
Hepatic Mitochondrial 3-Hydroxy-3-Methylglutaryl-Coenzyme A Synthase Deficiency
With avoidance of fasting, the patient has had no problems since presentation and is developing normally at 4 y of age, and total HMG-CoA synthase activity in liver homogenate was only slightly lower than in control samples.
Introduction of a ketogenic diet in young infants
The ketogenic diet was introduced and maintained successfully in young infants using long-chain fat emulsion and monitoring 3-hydroxybutyrate at the bedside was useful for metabolic control and superior to urine dipstick analysis.
Neonatal hypoglycaemia in severe succinyl-CoA:3-oxoacid CoA-transferase deficiency
Patients with SCOT deficiency do not always manifest ketosis with administration of a sufficient amount of carbohydrates, but that even under such conditions hyperketonaemia is difficult to eliminate completely, indicating the presence of hypoglycaemia does not exclude the diagnosis of SCot deficiency in infancy.
Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy.
It was concluded that the absence of CoA-transferase activity resulted in a loss of intracellular homeostasis leading to ketoacidosis and appears to be a reasonable explanation for the alteration in glucose metabolism that was previously reported in fibroblasts from this patient.
Cerebral ketone body metabolism
  • A. Morris
  • Biology
    Journal of Inherited Metabolic Disease
  • 2005
The ability of KBs to act as an alternative fuel explains the effectiveness of the ketogenic diet in GLUT1 deficiency, but its effectiveness in epilepsy remains unexplained.
Obligate Role for Ketone Body Oxidation in Neonatal Metabolic Homeostasis*
The use of novel Oxct1−/− mice, which lack the ketolytic enzyme succinyl-CoA:3-oxo-acid CoA-transferase, and newborn SCOT-deficient mice demonstrate evidence of adaptive energy acquisition are indicated, suggesting that distinct tissues exhibit specific metabolic responses to loss of ketone body oxidation.