hyperammonemia/tinneas cinn

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Differential ammonia decay kinetics indicates more than one concurrent etiological mechanism for symptomatic hyperammonemia caused by valproate overdose.

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Logáil Isteach / Cláraigh

Valproic acid (VPA) has successfully been used in the therapy of a number of conditions including absence seizures, partial seizures, tonic-clonic seizures, bipolar disorder, schizoaffective disorder, social phobias, neuropathic pain and migraine headaches. There is a high rise in number of cases of

Hyperinsulinism-hyperammonemia Syndrome in an Infant with Seizures.

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Logáil Isteach / Cláraigh

Hyperinsulinism-hyperammonemia syndrome (HI/HA) is the second most common form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI). The main clinical characteristics of HI/HA syndrome are repeated episodes of symptomatic hypoglycemia, but not usually severe. Consequently, children with

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.

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Logáil Isteach / Cláraigh

N-acetylglutamate synthase deficiency (NAGSD) is an extremely rare urea cycle disorder (UCD) with few adult cases so far described. Diagnosis of late-onset presentations is difficult and delayed treatment may increase the risk of severe hyperammonemia. We describe a 52-year-old woman with recurrent

High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase.

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Logáil Isteach / Cláraigh

Asparaginase is a mainstay of treatment of childhood acute lymphoblastic leukemia. Pegylation of asparaginase extends its biological half-life and has been introduced in the newest treatment protocols aiming to further increase treatment success. Hyperammonemia is a recognized side effect of

Safety, Tolerability and Pharmacokinetics of L-Ornithine Phenylacetate in Patients with Acute Liver Injury/Failure and Hyperammonemia.

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Logáil Isteach / Cláraigh

Cerebral edema remains a significant cause of morbidity and mortality in patients with acute liver failure (ALF) and has been linked to elevated blood ammonia levels. l-ornithine phenylacetate (OPA) may decrease ammonia by promoting its renal excretion as phenylacetylglutamine (PAGN), decreasing the

Metabolic improvements in intrahepatic porto-systemic venous shunt presenting various metabolic abnormalities by 4-phenylacetate.

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Logáil Isteach / Cláraigh

BACKGROUND Intrahepatic congenital portosystemic venous shunt (CPSVS) presents hyperammonemia, cholestasis, hypergalactosemia and imbalanced vasomediators. Especially, fluctuating plasma ammonia often causing neurological signs and symptoms is a serious problem in the daily life. 4-Phenylacetate

Adjunctive topiramate enhances the risk of hypothermia associated with valproic acid therapy.

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Logáil Isteach / Cláraigh

BACKGROUND Topiramate was approved for the treatment of epilepsy in 1999 and has since been approved for the prevention of migraine headache. It is structurally different from the majority of antiepileptic medications and is pharmacodynamically unique in its ability to inhibit the enzyme carbonic

Spontaneous occlusion of brainstem arteriovenous malformation following ligature of a hepatic patent ductus venosus. Case report and review of the literature.

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Logáil Isteach / Cláraigh

The authors describe the clinical and radiological findings in a case of brainstem arteriovenous malformation (AVM) associated with a hepatic patent ductus venosus (PDV) in a 12-year-old child. The AVM was discovered on magnetic resonance (MR) imaging performed because of slight mental retardation

Characteristics of NO cycle coupling with urea cycle in non-hyperammonemic carriers of ornithine transcarbamylase deficiency.

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Logáil Isteach / Cláraigh

Urea cycle deficient patients with prominent hyperammonemic often exhibit abnormal production of nitric oxide (NO), which reduces vascular tone, along with amino acid abnormalities. However, information related to the metabolic changes in heterozygotes of ornithine transcarbamylase deficiency (OTCD)

[Vomiting associated with weight stagnation and convulsions: urea cycle disorder should be suspected].

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Logáil Isteach / Cláraigh

In some inherited metabolic diseases, in particular in urea cycle disorders, which are usually diagnosed in neonatal period or in childhood, vomiting is often the first symptom. We report a case of late revelation of urea cycle disorder in a 13 years old female patient hospitalized for convulsions

[Clinical and laboratory screening studies on urea cycle defects].

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Logáil Isteach / Cláraigh

OBJECTIVE To investigate the incidences of urea cycle defects (UCDs) in the patients with hyperammonemia and study their etiology, clinical and laboratory features. METHODS In the past 7 years, 26 cases (10.2%) of UCDs were detected from 254 patients with hyperammonemia. The etiological diagnoses

Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio.

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Logáil Isteach / Cláraigh

BACKGROUND Phenylacetic acid (PAA) is the active moiety in sodium phenylbutyrate (NaPBA) and glycerol phenylbutyrate (GPB, HPN-100). Both are approved for treatment of urea cycle disorders (UCDs) - rare genetic disorders characterized by hyperammonemia. PAA is conjugated with glutamine in the liver

Late diagnosis of ornithine transcarbamylase defect in three related female patients: polymorphic presentations.

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Logáil Isteach / Cláraigh

OBJECTIVE To describe three female patients of one family with different phenotypes of the same mutation of the ornithine transcarbamylase gene. X-linked inherited ornithine transcarbamylase deficiency is the most frequent urea cycle disorder. Many of the hemizygous males die during the neonatal

[Abrupt onset and rapid deterioration in the course of congenital ornithine transcarbamylase deficiency: a case report].

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Logáil Isteach / Cláraigh

We report a 17-year-old female case of ornithine transcarbamylase (OTC) deficiency who died of brain edema due to hyperammonemic attack. The patient had a brother with OTC deficiency who had died of hyperammonemia at 17 years of age. She firstly had a symptom of headache, nausea, vomiting and

[Ornithine transcarbamylase deficiency in adolescence and adulthood: first manifestation with life-threatening decompensation].

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Logáil Isteach / Cláraigh

BACKGROUND Ornithine transcarbamylase (OTC) deficiency is the most frequent innate disorder of the urea cycle and is X-chromosome linked. The disease normally manifests itself shortly after birth and is fatal when untreated. Due to the different expression and X-chromosomal inheritance the

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