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Definition

An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

Acronym

GA2C

Synonyms

EMA
ETFDH deficiency
Ethylmalonic-adipicaciduria
GAIIC
Glutaricaciduria IIC
MADD
Multiple acyl-CoA dehydrogenase deficiency

Keywords

Glutaricaciduria

 
Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

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