Methylmalonic acidemia: Difference between revisions

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


==Causes==
==Historical Perspective==
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]].


==Types==
==Classification==
===Types===
* {{OMIM|251100}} - cblA type
* {{OMIM|251100}} - cblA type
* {{OMIM|251110}} - cblB type
* {{OMIM|251110}} - cblB type
Line 36: Line 37:


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
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==
==See also==
Line 42: Line 78:
* [[Methylmalonic acid]]
* [[Methylmalonic acid]]


== References ==
==References==
* [http://www.oaanews.org  Organic Acidemia Association]
* [http://www.oaanews.org  Organic Acidemia Association]
* {{NLM|methylmalonicacidemia}}
* {{NLM|methylmalonicacidemia}}
* [http://www.whcenter.org/15171.cfm Washington Health Center]
* [http://www.whcenter.org/15171.cfm Washington Health Center]
==References==
{{reflist|2}}


[[fr:Acidémie méthylmalonique]]
[[fr:Acidémie méthylmalonique]]


{{Endocrine, nutritional and metabolic pathology}}
{{Endocrine, nutritional and metabolic pathology}}
[[Category:Endocrinology]]
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[[Category:Disease]]
[[Category:Genetic Disease]]
[[Category:Inborn errors of metabolism]]

Revision as of 16:53, 21 July 2016

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List of terms related to Methylmalonic acidemia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Methylmalonic acidemia
Methylmalonic acid
ICD-10 E71.1
ICD-9 270.3
DiseasesDB 29509 Template:DiseasesDB2
MedlinePlus 001162
eMedicine neuro/576 

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

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 Methylmalonic acidemia 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

References

References

Template:Endocrine, nutritional and metabolic pathology


Template:WikiDoc Sources