Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0162275 (ketonuria)
 553 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two groups of rats were given, ad libitum, diets containing 20% fat for 4-5 weeks. The fat consisted of either long chain (LCT) or medium chain triglycerides (MCT). A third group of rats was given a low fat control diet. No difference in weight increase could be found between LCT and MCT rats. Total lipids and cholesterol concentrations in the plasma were the same whatever the diet. The high fat diets caused an increase in hepatic acetyl-CoA, citrate, malate and ketone body concentrations. Concentration of ketone bodies in the blood, however, decreased. No ketonuria occurred in any case. Hepatic levels of adenosine 5'-triphosphate, adenosine 5'-monophosphate and inoganic phosphate seemed higher in MCT rats than in LCT rats. The levels of these substrates were increased in both groups compared with the control group. LCT rats had hepatic (NS) and blood (HS) lactate and pyruvate concentrations below the corresponding figures for control rats. Hepatic and blood lactate concentrations in MCT rats were at least equal to or slightly higher (NS) than those of control rats. Hepatic glucose and glycogen and blood glucose concentrations were higher in rats given the high fat diet.
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PMID:Influence of a long or medium chain triglyceride diet on intermediary hepatic metabolism of the rat. 122 67

Ketonuria accompanying hypoglycaemia is conventionally thought to exclude fat oxidation defects. We describe a 2 year old girl with hypoglycaemic encephalopathy in whom a diagnosis of very long chain acyl CoA dehydrogenase deficiency was suggested on the basis of acylcarnitine analysis despite massive ketonuria.
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PMID:Fat oxidation defect presenting with overwhelming ketonuria. 1239 Sep 22

Encephalopathy and Myopathy in children of varying ages can be due to variety of causes including Mitochondrial diseases, metabolic diseases like renal tubular acidosis, storage diseases as well as fatty acid oxidation (FAO) disorders. FAO related disorders have variable clinical presentation and manifest in different ages. They may present with hypoglycemia, effort intolerance, multi organ involvement with or without ketonuria. High degree of suspicion and appropriate investigations are mandatory for diagnosis. Here we describe an 11 Year old boy, born to non - consanguineous parents. Presented with exertion induced muscle pain and fatigue of 1year duration, which slowly progressed to severe weakness and vomiting. His reflexes were retained. Therefore metabolic vs inflammatory muscle diseases were considered. Patient had ketonuria with elevated blood levels of medium chain acyl carnitine and long chain acyl carnitine suggestive of MADD. Urine organic acid assessment showed elevated excretion of 2-hydroxyglutarate (2HG), adipate and arabitol. Muscle biopsy showed multiple fine vacuoles on Eosin- hematoxylin stained preparation. Modified Gomori - trichrome stain showed vacuolated fibers with red granular material consistent with ragged red fibers. Oil Red O stains showed vacuolated fibers with 'oil red O' positive material suggesting lipid storage. Above combination of features is consistent of MADD. Genetic evaluation is not done due to financial constraint. Patient was started on high dose riboflavin and carnitine, with which the child became near normal. Our patient is a case of MADD presenting as Reye's syndrome like features and showed excellent response to riboflavin, carnitine, dietary and life style changes. High degree of suspicion is lifesaving.
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PMID:Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency. 3027 77