Vitamin B12-unresponsive methylmalonic acidemia type mut0
MONDO:0017360Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.
Also known as: complete deficiency of methylmalonyl-CoA mutase, vitamin B12-unresponsive methylmalonic aciduria type mut0
0 clinical trials for this condition and its sub-types.
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Disease
(680)
Metabolic disease
(233)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
Methylmalonic acidemia
(7)
Inborn organic aciduria
(5)
Inborn disorder of amino acid metabolism
(4)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
(4)
Disease of genetic or genomic mechanism
(2)
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