Literature summary for 1.5.5.1 extracted from

Shioya, A.; Takuma, H.; Yamaguchi, S.; Ishii, A.; Hiroki, M.; Fukuda, T.; Sugie, H.; Shigematsu, Y.; Tamaoka, A.
Amelioration of acylcarnitine profile using bezafibrate and riboflavin in a case of adult-onset glutaric acidemia type 2 with novel mutations of the electron transfer flavoprotein dehydrogenase (ETFDH) gene (2014), J. Neurol. Sci., 346, 350-352 .

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Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q16134	-	-

Synonyms

Synonyms	Comment	Organism
electron transfer flavoprotein dehydrogenase	-	Homo sapiens
ETFDH	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	multiple acyl-coenzyme A dehydrogenase deficiency (MADD), also known as glutaric acidemia type 2 (GA2), is a rare autosomal recessive disorder whose biochemical abnormalities result from a deficiency of one of the two electron transfer flavoproteins (ETF and ETFDH) that transfer electrons from acyl-CoA dehydrogenases to the respiratory chain. Bezafibrate (BEZ) is a hypolipidemic drug that is as an agonist of the peroxisome proliferating activator receptor, and is beneficial in Japanese children with ETFDH gene mutations exhibiting GA2. BEZ, L-carnitine, and riboflavin each show partial effectiveness and produce partial remission in a patient with GA2. The disorder affects multiple metabolic pathways involving branched amino acids, fatty acids, and tryptophan, and results in a variety of distinctive organic acids being discharged. The heterogeneous clinical features of patients with GA2 fall into three subclasses: two neonatal-onset forms (types I/ II) and a late-onset form (type III), phenotypes, overview	Homo sapiens

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Release 2023.1 (January 2023)