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-hydroxy-3-methylglutaryl-coa lyase deficiency

OMIM:246450
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolHMGCL
Reference transcriptNM_000191.2
DNA Changec.109G>T
A.A. Changep.Glu37Ter
Exon/Intronexon 2
Mutation Typesubstitution
ReferencePie J, Casals N, Casale CH, Buesa C, Mascaro C, Barcelo A, Rolland MO, Zabot T, Haro D, Eyskens F, Divry P, Hegardt FG.A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Biochem J. 1997 Apr 15;323 ( Pt 2):329-35.