introduction: glutaric academia type i is a metabolic disorder that is caused due to deficiency of glutaryl-coa dehydrogenase. macrocephaly is a common sign in ga1, although many infants usually appear healthy at birth.   case report a 5.5 year old boy with ga1was admitted to nicu. chief compliance of patient for hospitalization was pneumonia and sepsis and he was intubated and mechanically ven...

Glutaric aciduria type 1 is a rare inherited organic academia. Untreated patients characteristically develop dystonia secondary to striatal injury during early childhood, which results in high morbidity and mortality. In patients diagnosed during neonatal period, striatal injury can be prevented by metabolic treatment including low lysine diet, carnitine supplementation and aggressive emergency...

Introduction: Glutaric academia type I is a metabolic disorder that is caused due to deficiency of glutaryl-CoA dehydrogenase. Macrocephaly is a common sign in GA1, although many infants usually appear healthy at birth.   Case Report A 5.5 year old boy with GA1was admitted to NICU. Chief compliance of patient for hospitalization was pneumonia and sepsis and he was intubated and mechanically ven...

clinical differential diagnosisthe organic acidemias are important in the differential diagnosis of metabolic and neurologic derangement in the neonate and of new-onset neurologic signs in the older child. a-organic aciduriaseveral disorders, not classified as primary disorders of organic acid metabolism, have a characteristic urinary organic acid profile that suggests the appropriate diagnosis...

Glutaric acidemia type I (GA-I) is an inherited disorder of lysine and tryptophan metabolism presenting with striatal lesions anatomically and symptomatically similar to Huntington disease. Affected children commonly suffer acute brain injury in the context of a catabolic state associated with nonspecific illness. The mechanisms underlying injury and age-dependent susceptibility have been unkno...

The esterification of bagasse with glutaric anhydride could increase surface adhesion compatibility and the surface of derived polymers has the potential of immobilizing peptides or proteins for biomedical application. Due to its complicated components, the esterification mechanism of bagasse esterified with glutaric anhydride in ionic liquids has not been studied. In this paper, the homogenous...

Işıkay S, Yaman A, Ceylaner S. An infant with glutaric aciduria type IIc diagnosed with a novel mutation. Turk J Pediatr 2017; 59: 315-317. Glutaric aciduria type II is a rare inborn error of metabolism. The clinical picture is highly variable with symptoms ranging from acute metabolic decompensations to chronic, mainly muscular problems or even asymptomatic cases. Herein we described a 7-month...

Glutaric acid has been shown to be an intermediate in the mammalian catabolism of lysine (1). Two routes have been proposed for the degradation of glutaric acid (2-5). One pathway yields acetate, and the other involves a direct conversion to the carbon chain of ac-ketoglutarate. In an effort to assess the relative importance of each pathway, we have studied the metabolism of glutaric acid-3-Cl4...

Glutaric acid has been shown to be an intermediate in the mammalian catabolism of lysine (1). Two routes have been proposed for the degradation of glutaric acid (2-5). One pathway yields acetate, and the other involves a direct conversion to the carbon chain of ac-ketoglutarate. In an effort to assess the relative importance of each pathway, we have studied the metabolism of glutaric acid-3-Cl4...

Glutaric aciduria type 1 is an autosomal recessive metabolic disorder caused by a deficiency of glutaryi-CoA dehydrogenase. This disorder is characterized by progressive dystonia and dyskinesia. Laboratory evaluation demonstrates excessive levels of glutaric acid urinary excretion as well as absence of demonstrable functional levels of glutaryi-CoA in fibroblast cultures. We present the CT and ...