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Definition (NCI)
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A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is 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.
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Definition (CSP)
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autosomal recessive aminoacidopathy characterized by an excess of methylmalonic acid in the blood and urine, with metabolic ketoacidosis, hyperglycinemia, hyperglycinuria and hyperammonemia; results from defects that cause deficiencies of methylmalonyl-CoA mutase.
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| Concepts |
Disease or Syndrome
(T047)
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| MSH |
C537358
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| ICD10 |
E71.120
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| SnomedCT |
190727006, 42393006 |
| LNC |
LP56992-8 |
| English |
Methylmalonic aciduria, methylmalonic aciduria, methylmalonic acidemia (diagnosis), methylmalonic aciduria (diagnosis), methylmalonic acidemia, Methylmalonic acidemias, Acidemia, methylmalonic, Methylmalonic acidemia, methylmalonic acidaemia, acidemias methylmalonic, Methylmalonic Acidemia, Methylmalonic Aciduria, Isolated Methylmalonic Acidemia, MMA - Methylmalonic aciduria, Methylmalonic acidaemia, Methylmalonic acidemia (disorder), disorder; methylmalonic acidemia, acidemia; methylmalonic, methylmalonic acidemia; disorder, methylmalonic; acidemia, Methylmalonic acidemia, NOS |
| Italian |
Aciduria metilmalonica
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| Japanese |
メチルマロン酸尿症, ﾒﾁﾙﾏﾛﾝｻﾝﾆｮｳｼｮｳ |
| Czech |
Methylmalonová acidurie
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| Hungarian |
Methylmalonil aciduria
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| Dutch |
acidemie; methylmalon, methylmalon; acidemie, methylmalonacidemie; stoornis, stoornis; methylmalonacidemie, methylmalonzuur acidurie |
| Spanish |
acidemia metilmalónica (trastorno), acidemia metilmalónica, Aciduria metilmalónica |
| Portuguese |
Acidúria metilmalónica
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| French |
Acidurie méthylmalonique
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| German |
Methylmalonazidurie
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