arginase/seizures

Linkul este salvat în clipboard

ArticoleStudii cliniceBrevete

Alegeți tipul de sortare

Pagină 1 din 32 rezultate

Spermidine influence on the nitric oxide synthase and arginase activity relationship during experimentally induced seizures.

Numai utilizatorii înregistrați pot traduce articole

Nitric oxide (NO), a potential candidate for a modulator of convulsive activity, is a mediator in several pathological events in the central nervous system. The polyamines, spermidine (Spd) and spermine, are neuromodulators influencing the metabolism of L-arginine and NO production. Here we examined

Arginase deficiency presenting with convulsions.

Numai utilizatorii înregistrați pot traduce articole

Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity.

Numai utilizatorii înregistrați pot traduce articole

Urea cycle disorders (UCD) are very rare metabolic disorders that present with encephalopathy and hyperammonemia. Of the UCDs, Arginase deficiency (ARD) is the rarest and presents in childhood with a progressive spastic diplegia or seizures. Acute presentation in adulthood is extremely unusual.[1]

Manganese and epilepsy: brain glutamine synthetase and liver arginase activities in genetically epilepsy prone and chronically seizured rats.

Numai utilizatorii înregistrați pot traduce articole

Low blood manganese (Mn2+) concentration is associated with epilepsy in humans and rats. The low Mn2+ concentration is attributed by some investigators to the seizure activity associated with the epilepsy, whereas others propose that the low Mn2+ concentration may be secondary to genetic mechanisms

Arginase Deficiency

Numai utilizatorii înregistrați pot traduce articole

Clinical characteristics: Arginase deficiency in untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and early childhood are normal.

A simple screening test for arginase deficiency (hyperargininemia).

Numai utilizatorii înregistrați pot traduce articole

A simple fluorescent spot screening test has been developed for the identification of individuals with arginase deficiency (hyperargininemia). The assay is based on the coversion of arginine to ornithine and urea by arginase present in 1/8 inch disc of dried blood on filter paper. The enzyme

Effects of febrile and afebrile seizures on oxidant state in children.

Numai utilizatorii înregistrați pot traduce articole

No comparative studies have addressed the oxidant and antioxidant states of blood and cerebrospinal fluid. To reveal this differential state, the study was designed to identify the seizure type with the worse prognosis by determining erythrocyte arginase and erythrocyte catalase, plasma and

Prenatal diagnosis for arginase deficiency: a case study.

Numai utilizatorii înregistrați pot traduce articole

Arginase deficiency is a rare, autosomal recessive, disorder of the urea cycle characterized by mild hyperammonaemia, hyperargininaemia, dibasic aminoaciduria and orotic aciduria, associated with progressive spastic tetraplegia, seizures, psychomotor retardation, and growth failure. We report a

Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse.

Numai utilizatorii înregistrați pot traduce articole

Human arginase deficiency is characterized by hyperargininemia and infrequent episodes of hyperammonemia, which lead to neurological impairment with spasticity, loss of ambulation, seizures, and severe mental and growth retardation; uncommonly, patients suffer early death from this disorder. In a

Rescue of the Functional Alterations of Motor Cortical Circuits in Arginase Deficiency by Neonatal Gene Therapy.

Numai utilizatorii înregistrați pot traduce articole

Arginase 1 deficiency is a urea cycle disorder associated with hyperargininemia, spastic diplegia, loss of ambulation, intellectual disability, and seizures. To gain insight on how loss of arginase expression affects the excitability and synaptic connectivity of the cortical neurons in the

Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.

Numai utilizatorii înregistrați pot traduce articole

Arginase deficiency is caused by deficiency of arginase 1 (ARG1), a urea cycle enzyme that converts arginine to ornithine. Clinical features of arginase deficiency include elevated plasma arginine levels, spastic diplegia, intellectual disability, seizures and growth deficiency. Unlike other urea

"Cerebral Palsy" in a Patient With Arginase Deficiency.

Numai utilizatorii înregistrați pot traduce articole

Inborn errors of metabolism (IEMs) are thought to present in infancy with acute decompensation including feeding intolerance and vomiting, lethargy, and coma. Most practitioners assume that children will be diagnosed in their first months of life. However, certain IEMs present more insidiously, and

Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature.

Numai utilizatorii înregistrați pot traduce articole

Hyperargininemia is caused by deficiency of arginase 1, which catalyzes the hydrolysis of L-arginine to urea as the final enzyme in the urea cycle. In contrast to other urea cycle defects, arginase 1 deficiency usually does not cause catastrophic neonatal hyperammonemia but rather presents with

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

Numai utilizatorii înregistrați pot traduce articole

Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD). This hypothesis-generating study explored clinical phenotypes, metabolic profiles, molecular genetics, and treatment approaches in a cohort of children and adults with ARG1 deficiency to add to our understanding of the underlying

Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?

Numai utilizatorii înregistrați pot traduce articole

Enzyme defects of the urea cycle typically present with significant hyperammonemia and its associated toxicity, in the first few months of life. However, arginase I (ARG1) deficiency, a rare autosomal recessive disorder, has classically been the exception. ARG1 deficiency usually presents later in

Anterior
1
2
3
Următor →

Alăturați-vă paginii
noastre de facebook

Herbal & Natural Medicine

Cea mai completă bază de date cu plante medicinale susținută de știință

Funcționează în 55 de limbi
Cure pe bază de plante susținute de știință
Recunoașterea ierburilor după imagine
Harta GPS interactivă - etichetați ierburile în locație (în curând)
Citiți publicațiile științifice legate de căutarea dvs.
Căutați plante medicinale după efectele lor
Organizați-vă interesele și rămâneți la curent cu noutățile de cercetare, studiile clinice și brevetele

Tastați un simptom sau o boală și citiți despre plante care ar putea ajuta, tastați o plantă și vedeți boli și simptome împotriva cărora este folosit.
* Toate informațiile se bazează pe cercetări științifice publicate