Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

3-methylglutaconic aciduria, type I

OMIM:250950
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolAUH
Reference transcriptNM_001698.2
DNA Changec.589C>T
A.A. Changep.Arg197X
Exon/Intronexon 5
Mutation Typesubstitution
ReferenceIJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ.3-Methylglutaconic aciduria type I is caused by mutations in AUH.
Am J Hum Genet. 2002 Dec;71(6):1463-6.