mortality/aging
homeostasis/metabolism
• high methylmalonic acid in the liver, brain and kidney prior to birth with no increase after birth
|
• increased C3 propionylcarnitine in the urine and blood 1 day prior to birth, at birth and at 16 hours
|
• high methylmalonic acid in the urine
|
renal/urinary system
• high methylmalonic acid in the urine
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | DOID:0060740 |
OMIM:251000 |
J:191879 |