mortality/aging

premature death ( J:146537 )

• die around 5 to 6 weeks of age

growth/size

postnatal growth retardation ( J:146537 )

• from P15

homeostasis/metabolism

abnormal blood homeostasis ( J:146537 )

• elevated levels of lactate and C4 and C5 acylcarnitines

abnormal mineral level ( J:146537 )

• decreased urine levels of sulfate and increased urine levels of thiosulfates

• increased thiosulfate levels in the kidney and liver

• increased concentrations of hydrogen sulfide in the liver, muscle, and brain; levels in muscle are high enough to inhibit COX activity

abnormal urine homeostasis ( J:146537 )

• elevated levels of ethylmalonic acid and thiosulfates and decreased levels of sulfates

abnormal metabolism ( J:146537 )

• reduction in sulfide dependent oxygen consumption rate

• absence of glutathione-persulfide-dependent oxygen consumption in liver homogenates

abnormal enzyme/coenzyme activity ( J:146537 )

• COX activity is reduced in muscle and luminal colonocytes but not in liver or cryptal colonocytes

behavior/neurological

hypoactivity ( J:146537 )

abnormal gait ( J:146537 )

• wide based gait

renal/urinary system

abnormal urine homeostasis ( J:146537 )

• elevated levels of ethylmalonic acid and thiosulfates and decreased levels of sulfates

Mouse Models of Human Disease		OMIM ID	Ref(s)
Encephalopathy, Ethylmalonic; EE		602473	J:146537