The organic acidurias d-2-hydroxyglutaric aciduria (D-2-HGA), l-2-hydroxyglutaric aciduria (L-2-HGA),
and combined d,l-2-hydroxyglutaric aciduria (D,L-2-HGA) cause neurological …

… group from S-adenosylmethionine to GAA, yielding creatine and S-adenosylhomocysteine.
This reaction is catalyzed by S-… In vitro, GAMT activity is inhibited allosterically by high S-…

L‐2‐Hydroxyglutaric aciduria (L2HGA) is a rare, neurometabolic disorder with an autosomal
recessive mode of inheritance. Affected individuals only have neurological manifestations, …

We report the first X-linked creatine-deficiency syndrome caused by a defective creatine
transporter. The male index patient presented with developmental delay and hypotonia. Proton …

Several initiatives at establishing a classification of inherited metabolic disorders have been
published previously, some focusing on pathomechanisms, others on clinical manifestations…

Heterozygous somatic mutations in the genes encoding isocitrate dehydrogenase-1 and -2 (IDH1
and IDH2) were recently discovered in human neoplastic disorders. These mutations …

A novel X-linked mental retardation (XLMR) syndrome was recently identified, resulting from
creatine deficiency in the brain caused by mutations in the creatine transporter gene, …

Objectives: The study was focused on leukoencephalopathies of unknown cause in order to
define a novel, homogeneous phenotype suggestive of a common genetic defect, based on …

d-2-hydroxyglutaric aciduria is a neurometabolic disorder with both a mild and a severe
phenotype and with unknown etiology. Recently, a novel enzyme, d-2-hydroxyglutarate …

Objective Folinic acid–responsive seizures and pyridoxine‐dependent epilepsy are two
treatable causes of neonatal epileptic encephalopathy. The former is diagnosed by …