Analysis Tools
behavior/neurological
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• did not develop a preference for drinking water containing a corn oil emulsion
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• given a choice, selection of a fat/protein diet declines with time
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homeostasis/metabolism
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• block in short-chain fatty acid oxidation shown by reduced butyryl-CoA dehydrogenation in liver mitochondria
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• body temperature in most BALB/cByJ mice dropped 10 degrees C in less than 4 h at 4 degrees C, with none able to maintain body temperature for longer than 8 h in the cold
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• slightly lower plasma carnitine level
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• serum glycine concentrations are markedly lower than in controls
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hypoglycemia
(
J:14707
)
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• hypoglycemia develops after 18 hours of fasting with mean serum glucose measuring less than half of control values
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• HDL levels were significantly increased in mutant mice for both males and females fed either a regular chow or a high-fat diet
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• ethylmalonate, methylsuccinate, and butyrylglycine urinary excretion is higher than in controls
(J:4165)
• organic aciduria at 7-14 weeks of age, caused by relatively large amounts of n-butyrylglycine and ethylmalonate in the urine
(J:9743)
• markedly increased urinary concentrations of ethylmalonic and methylsuccinic acids, and N-butyrylglycine in nonfasting and fasting mice, and remained elevated with or without medium chain triglyceride challenge
(J:14707)
• upon dosing with carnitine, mice excrete large amounts of butyryl-carnitine in the urine
(J:14707)
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• ethylmalonate urinary excretion is higher than in controls
(J:4165)
• relatively large amounts of ethylmalonate in the urine at 7-14 weeks of age
(J:9743)
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liver/biliary system
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• fat deposits accumulate in the liver after 18 hours of fasting or with dietary fat challenge
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renal/urinary system
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• ethylmalonate, methylsuccinate, and butyrylglycine urinary excretion is higher than in controls
(J:4165)
• organic aciduria at 7-14 weeks of age, caused by relatively large amounts of n-butyrylglycine and ethylmalonate in the urine
(J:9743)
• markedly increased urinary concentrations of ethylmalonic and methylsuccinic acids, and N-butyrylglycine in nonfasting and fasting mice, and remained elevated with or without medium chain triglyceride challenge
(J:14707)
• upon dosing with carnitine, mice excrete large amounts of butyryl-carnitine in the urine
(J:14707)
|
|
• ethylmalonate urinary excretion is higher than in controls
(J:4165)
• relatively large amounts of ethylmalonate in the urine at 7-14 weeks of age
(J:9743)
|
cellular
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• block in short-chain fatty acid oxidation shown by reduced butyryl-CoA dehydrogenation in liver mitochondria
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muscle
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• wehn dosed with carnitine, mutant muscle exhibits a 9-fold increase in butyryl-carnitine concentration compared to controls
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| short chain acyl-CoA dehydrogenase deficiency | DOID:0080154 |
OMIM:201470 |
J:9743 | |
