methylmalonic acidemia
A genetically heterogenous inherited disorder characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.
MONDO:0000688
inborn organic aciduria
is_a
METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency
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METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A
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METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B
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methylmalonic acidemia, cblA type
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methylmalonic acidemia, cblB type
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methylmalonic aciduria
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methylmalonic aciduria cblB type
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methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
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methylmalonic aciduria mut type
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methylmalonic aciduria type cblA
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methylmalonic aciduria type cblB
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methylmalonic aciduria, mut type
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methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type
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methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type
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SPCC576.03c SPCC1827.03c