- 2-
hydroxyglutaric aciduria is a rare
neurometabolic disorder characterized by the
significantly elevated levels of
hydroxyglutaric acid in one's urine...
- α-
Hydroxyglutaric acid (2-
hydroxyglutaric acid) is an
alpha hydroxy acid form of
glutaric acid. In
humans the
compound is
formed by a hydroxyacid-oxoacid...
-
leukoencephalopathy with
subcortical cysts; and
glutaric aciduria type 1 and D-2-
hydroxyglutaric aciduria. At one end of the
genetic spectrum,
duplications of chromosomes...
-
Craniofacial microsomia Cutis laxa,
autosomal recessive, type 1B D-2-
hydroxyglutaric aciduria 1
Desmosterolosis Developmental and
epileptic encephalopathy...
-
which appear in the
breed include hydroxyglutaric aciduria,
which is
where elevated levels of Alpha-
Hydroxyglutaric acid are in the dog's urine, blood...
-
alkaptonuria Combined malonic and
methylmalonic aciduria (CMAMMA) 2-
hydroxyglutaric acidurias Disorders of
fatty acid
oxidation and
mitochondrial metabolism...
- alpha-hydroxyglutarate
oxidoreductase alpha-ketoglutarate
reductase hydroxyglutaric dehydrogenase L-alpha-hydroxyglutarate
dehydrogenase L-alpha-hydroxyglutarate:NAD+...
- in a
variety of
mammalian tissues.
Mutations in this gene
cause L-2-
hydroxyglutaric aciduria, a rare
autosomal recessive neurometabolic disorder resulting...
-
their intermediate breakdown products (glutaric acid, glutaryl-CoA, 3-
hydroxyglutaric acid,
glutaconic acid) can ac****ulate and
cause damage to the brain...
-
cerebellar abiotrophy, Chiari-like malformation,
myotonia congenita and L-2-
hydroxyglutaric aciduria.: 6 The
Staffordshire Bull
Terrier is one of the most commonly...
