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- Q742500 subject Q15127406.
- Q742500 subject Q6853484.
- Q742500 subject Q6902466.
- Q742500 subject Q7215445.
- Q742500 abstract "Methylmalonic acidemia (MMA), also called methylmalonic aciduria, first characterized by Oberholzer et al. in 1967, is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia. The result of this condition is the inability to properly digest specific fats and proteins, which in turn leads to a buildup of a toxic level of methylmalonic acid in the blood.Methylmalonic acidemia stems from several genotypes, all forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia. The disorder can result in death if undiagnosed or left untreated. It is estimated that this disorder has a frequency of 1 in 48,000 births, though the high mortality rate in diagnosed cases make exact determination difficult. Methylmalonic acidemias are found with an equal frequency across ethnic boundaries.".
- Q742500 icd10 "E71.1".
- Q742500 icd9 "270.3".
- Q742500 omim "251000".
- Q742500 thumbnail Methylmalonic_acid.svg?width=300.
- Q742500 wikiPageExternalLink query?dz=cbl.
- Q742500 wikiPageExternalLink query?dz=mma.
- Q742500 wikiPageExternalLink ?page=1.
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- Q742500 wikiPageExternalLink 15171.cfm.
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- Q742500 icd "270.3".
- Q742500 icd "E71.1".
- Q742500 name "Methylmalonic acidemia".
- Q742500 omim "251000".
- Q742500 type Disease.
- Q742500 type Thing.
- Q742500 type Q12136.
- Q742500 comment "Methylmalonic acidemia (MMA), also called methylmalonic aciduria, first characterized by Oberholzer et al. in 1967, is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia.".
- Q742500 label "Methylmalonic acidemia".
- Q742500 depiction Methylmalonic_acid.svg.
- Q742500 name "Methylmalonic acidemia".