View source for Methylmalonic acidemia

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{{Infobox_Disease |
  Name           = {{PAGENAME}} |
  Image          = Methylmalonic acid.svg |
  Caption        = [[Methylmalonic acid]] |
  DiseasesDB     = 29509 |
  DiseasesDB_mult = {{DiseasesDB2|29510}} | 
  ICD10          = {{ICD10|E|71|1|e|70}} |
  ICD9           = {{ICD9|270.3}} |
  ICDO           = |
  OMIM           = |
  MedlinePlus    = 001162  |
  eMedicineSubj  = neuro |
  eMedicineTopic = 576 |
  MeshID         = |
}}

==Overview==
'''Methylmalonic acidemia''' (MMA, also known as "methylmalonic aciduria") is an inborn error of intermediary [[metabolism]] that may present in the early [[neonatal]] period with progressive [[encephalopathy]] and death due to a secondary [[hyperammonemia]].

Methylmalonic acidemia does not always result in death, if it is diagnosed at an early age.

==Historical Perspective==

==Classification==
===Types===
* {{OMIM|251100}} - cblA type
* {{OMIM|251110}} - cblB type
* {{OMIM|277400}} - cblC type
* {{OMIM|277410}} - cblD type
* {{OMIM|277380}} - cblF type
* {{OMIM|606169}} - cblH type
* {{OMIM|251000}} - mut type

Cobalmin (vitamin B12) is also needed for the conversion of methylmalonyl-CoA to Succinyl-CoA.  Mutations leading to defects in cobalmin or in its transport frequently result in the development of acidemia.  The numerous pat

==Pathophysiology==

==Causes==
Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. Methylmalonic acidemia is a disorder of [[amino acid metabolism]], involving a defect in the conversion of [[methylmalonyl-coenzyme A]] (CoA) to [[succinyl-CoA]] by [[methylmalonyl-CoA mutase]].

==Differentiating {{PAGENAME}} from Other Diseases==

==Epidemiology and Demographics==

==Risk Factors==

==Screening==

==Natural History, Complications, and Prognosis==

==Diagnosis==
===Diagnostic Criteria===

===History and Symptoms===

===Physical Examination===

===Laboratory Findings===

===Imaging Findings===

===Other Diagnostic Studies===

==Treatment==
===Medical Therapy===

===Surgery===

===Prevention===

==See also==
* [[Isovaleric acidemia]]
* [[Propionic acidemia]]
* [[Methylmalonic acid]]

==References==
* [http://www.oaanews.org  Organic Acidemia Association]
* {{NLM|methylmalonicacidemia}}
* [http://www.whcenter.org/15171.cfm Washington Health Center]

{{reflist|2}}

[[fr:Acidémie méthylmalonique]]

{{Endocrine, nutritional and metabolic pathology}}

[[Category:Endocrinology]]

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