Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1

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

“…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.…”

“…Both these mutations were seen in unrelated families and did not have a similar phenotypic effect, suggesting a poor genotype-phenotype correlation and interfamilial variability in GA I. Intrafamilial variability as previously reported by Gregersen et al (1977) and Kolker et al (2007) was also observed in one of our families; the siblings in F10 and F11 (F10 showed presence of isolated macrocephaly and seizure in one sib and severe dystonia with regression in another sib) with the same mutation and genetic background had different phenotypes, suggesting intrafamilial variability in GA I. This intrafamilial and interfamilial variability can probably be explained by the epigenetic factors or complex interactions at tissue or metabolic levels and the extent of neurological damage caused by the various precipitating factors (Wang et al 2013). In our cohort, exon 11 (in 53%; 18/34 alleles) followed by exon 8 (in 23.5%; 8/34 alleles) appear to harbour most of the mutations (Fig.…”

“…They died at home probably due to aspiration pneumonia. Striatal neuroradiological abnormalities -hyperintensities in caudate (C), putamen (P), F1 (P), F2 (C,P), F3 (C,P), F4 (P), F5 (P,C), F6 (P), F8 (P), F10b (C,P), F11a (P), F15 (C,P) (Wang et al 2013). Amongst the seven novel mutations, one is frameshift and six are missense mutations.…”

Glutaric Acidemia Type 1: A Case of Infantile Stroke

“…There may also be acute neuroregression and extrapyramidal symptoms following an initial phase of normal or almost normal development by striatal necrosis with stroke like characteristics. As the disease exhibits a slow progression, late onset presentations or asymptomatic cases in elderly ages were rarely reported (Fraidakis et al 2014;Wang et al 2014). Our case is compatible with typical age of presentation with 9 months of age, he was the first child of the family with consanguineous marriage and presented with stroke associated seizure during an acute gastroenteritis.…”

Liquid–Liquid Extraction and Solid Phase Extraction for Urinary Organic Acids: A Comparative Study from a Resource Constraint Setting

“…Though considered a waste product of the body, it has great value as a diagnostic biofluid [1][2][3]. Organic acidemias are a heterogeneous group of Inborn errors of metabolism in which a specific enzyme is defective or absent in metabolic pathway [4][5][6][7][8]. In most organic acidemias certain metabolites are accumulated in the body fluid like urine, blood and CSF.…”