Literature summary for 1.5.5.1 extracted from

Xue, Y.; Zhou, Y.; Zhang, K.; Li, L.; Kayoumu, A.; Chen, L.; Wang, Y.; Lu, Z.
Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II (2017), Lipids Health Dis., 16, 185 .

Search for more literature for 1.5.5.1

Application

Application	Comment	Organism
medicine	mutations A84T/S307C identified in a chinese woman with late-onset glutaric aciduria type II reveal lipid storage myopathy. Blood biochemical test and urine organic acid analyses are consistent with glutaric aciduria type II	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
A84T/S307C	mutations identified in a chinese woman with late-onset glutaric aciduria type II. The muscle biopsy of the patient reveals lipid storage myopathy. Blood biochemical test and urine organic acid analyses are consistent with glutaric aciduria type II	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q16134	-	-

Synonyms

Synonyms	Comment	Organism
ETFDH	-	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)