Wikia

Psychology Wiki

Methylmalonic acidemia

Talk0
34,141pages on
this wiki
Revision as of 07:50, June 23, 2007 by Dr Joe Kiff (Talk | contribs)

(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)

Assessment | Biopsychology | Comparative | Cognitive | Developmental | Language | Individual differences | Personality | Philosophy | Social |
Methods | Statistics | Clinical | Educational | Industrial | Professional items | World psychology |

Biological: Behavioural genetics · Evolutionary psychology · Neuroanatomy · Neurochemistry · Neuroendocrinology · Neuroscience · Psychoneuroimmunology · Physiological Psychology · Psychopharmacology (Index, Outline)


Methylmalonic acid.svg|
Methylmalonic acidemia
ICD-10 E711
ICD-9 270.3
OMIM [1]
DiseasesDB 29509 29510
MedlinePlus 001162
eMedicine neuro/576
MeSH {{{MeshNumber}}}

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.

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.

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

See also

References

fr:Acidémie méthylmalonique


This page uses Creative Commons Licensed content from Wikipedia (view authors).

Around Wikia's network

Random Wiki