glutaric acidemia 2

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glutaric acidemia 22016-11-25T22:52:00+00:00

glutaric acidemia 2

METABOLISM

Definition An autosomal recessive disorder (OMIM:231680) of fatty acid, amino acid, and choline metabolism, characterised by multiple acyl-CoA dehydrogenase deficiencies, resulting in marked excretion of glutaric acid, as well as lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.  

Molecular pathology Defects in genes (glutaric acidemia IIA–ETFA; glutaric acidemia IIB–ETFB, and glutaric acidemia IIC–ETFDH) involved in electron transfer in the mitochondrial respiratory chain, cause glutaric acidemia type 2. 

Synonyms Glutaric aciduria type 2, multiple acyl-CoA dehydrogenase deficiency 

References http://www.uniprot.org/uniprot/P38117

http://www.omim.org/entry/231680

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