Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1

Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients

“…In accordance with previous studies, we also did not observe any genotype and phenotype correlation Mushimoto et al 2011). Interestingly, in our cohort, Arg402Trp (allele frequency 8/34, 23.5%) mutation emerged as one of the common mutations in four unrelated Muslim families.…”

“…Out of these three had normal development, while others had developmental delay and/or regression. In accordance with other studies (Wang et al 2013;Mushimoto et al 2011), a combination of macrocephaly, developmental regression, dystonia and seizures emerged as the predominant presenting feature. Three out of 17 had normal development (F2, F10a, F6) despite having the precipitating event and radiological abnormalities.…”

Disruption of brain redox homeostasis in glutaryl-CoA dehydrogenase deficient mice treated with high dietary lysine supplementation

“…Considering that astrogliosis (reactive astrocytes), that is usually associated with increased production of reactive oxygen species, was found in the striatum and cerebral cortex of the Gcdh −/− mice submitted to 4.7% dietary Lys [39] and also in the brain of GA I patients [4,8,9], it seems justified to investigate redox homeostasis in Lys-treated Gcdh −/− mice. In this regard, we have recently verified that oxidative stress is induced in vivo in the striatum and cerebral cortex of 30-day-old Gcdh −/− mice submitted to an acute intraperitoneal injection of Lys [40].…”

“…Patients can also develop chronically progressive neurological dysfunction without undergoing acute episodes [2,4,5]. Cranial MRI findings usually show a pattern of progressive spongiform white matter changes (leukoencephalopathy) with cortical hypoplasia, subdural hemorrhages and degeneration of the basal ganglia with loss of medium spiny neurons, as well as astrogliosis [4,[6][7][8][9].…”

Glutaric Acidemia Type 1: A Case of Infantile Stroke

“…Macrocephaly is a constant feature and can be present at birth or a rapid increase of head circumference can take place after birth with an estimated frequency of 65-75% reported in patients with GA-1, however microcephaly can be observed in patients with GA-1 during the first 8 months of life and besides there were cases reported without macrocephaly (Baradaran et al 2014;Gupta et al 2014;Wang et al 2014). There is no association between macrocephaly and outcome whereas in some cases the frequency of macrocephaly was higher in mild impairment group than severe one, leading to an early diagnosis by macrocephaly (Mushimoto et al 2011). In our case the above stated symptoms were all absent except encephalitis like crises, he was normocephalic with occipitofrontal circumference of 50-75th percentile for chronologic age.…”