hyperammonemia/urlacan

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Liver failure with coagulopathy, hyperammonemia and cyclic vomiting in a toddler revealed to have combined heterozygosity for genes involved with ornithine transcarbamylase deficiency and Wilson disease.

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Logáil Isteach / Cláraigh

A girl with a 2 month history of cyclic episodes of vomiting, diarrhea, and lethargy lasting 2-3 days each presented with acute hepatopathy (ALT 3,500 IU/L) with coagulopathy (PT 55 s) and hyperammonemia (207 μmol/L) at age 1½ years. Biochemical and molecular analyzes revealed ornithine

Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency.

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Logáil Isteach / Cláraigh

A 52-year-old woman developed vomiting and disturbance of consciousness after consuming raw fish and sushi on a trip. A blood test showed hyperammonemia (310 μg/dL) with a normal liver function. She fell into a deep coma, and her serum ammonia level increased to 684 μg/dL. L-arginine was

Hyperammonemia, bane of the brain.

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Logáil Isteach / Cláraigh

Ammonia, normally produced from catabolism of amino acids, is a deadly neurotoxin. As such, the concentration of free ammonia in the blood is very tightly regulated and is exceeded by two orders of magnitude by its physiologic derivative, urea. The normal capacity for urea production far exceeds the

A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.

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Logáil Isteach / Cláraigh

We report a 3-year-old Saudi boy with recurrent episodes of vomiting, poor feeding, and altered mental status accompanied by an intermittent mild hyperammonemia, and a large elevation of urinary orotic acid. Sanger sequencing of the ornithine transcarbamylase (OTC) gene revealed a novel hemizygous

Vomiting, ataxia, and altered mental status in an adolescent: late-onset ornithine transcarbamylase deficiency.

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Logáil Isteach / Cláraigh

A case of a 13-year-old boy with protracted vomiting, ataxia, and altered mental status, ultimately diagnosed with late-onset ornithine transcarbamylase (OTC) deficiency, is presented. OTC deficiency is the most common urea cycle defect and typically is diagnosed in male infants with irritability,

[A case of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome with spastic paraparesis and severe distal muscle atrophy of lower limbs].

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Logáil Isteach / Cláraigh

A 16-year-old boy with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome was reported. He was the second child of first-cousin consanguineous parents. Since childhood, he was mentally retarded and had frequent episodes of vomiting but no unconsciousness attack. Because of progressive

Hyperinsulinism Hyperammonemia Syndrome, a Rare Clinical Constellation.

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Logáil Isteach / Cláraigh

We present the unique case of adult hyperinsulinism hyperammonemia syndrome (HI/HA). This condition is rarely seen in children and even more infrequently in adults. A 27-year-old female with HI/HA, generalized tonic-clonic seizures, staring spells, and gastroesophageal reflux disease presented with

Clinical and biochemical studies on periodic hyperammonemia with hyperlysinemia and homocitrullinuria.

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Logáil Isteach / Cláraigh

An 18-year-old mentally and physically retarded boy, suffering from episodes of anorexia, vomiting, coma and convulsion which have been severer with advance in age, had periodic hyperammonemia, hyperlysinemia and homocitrullinuria. Blood cell arginase activity of the patient on normal diet was

[A Case of Consciousness Disturbance Caused by Hyperammonemia during a mFOLFOX6 Regimen for Metastatic Colon Cancer].

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Logáil Isteach / Cláraigh

Systemic chemotherapy based on 5-fluorouracil (5-FU) is a standard treatment for unresectable or recurrent colorectal cancer. Although hyperammonemia is known as one of the adverse side effects of 5-FU, a disturbance of consciousness caused by hyperammonemia is not a usual finding. We encountered a

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

Valproic acid-induced hyperammonemia and thrombocytopenia in an elderly woman.

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Logáil Isteach / Cláraigh

OBJECTIVE To describe a case of oral valproic acid-induced hyperammonemia and thrombocytopenia in an elderly patient. METHODS A 76-year-old white woman presented to the emergency department with generalized weakness, confusion, nausea, and vomiting. She was taking sodium divalproex 750 mg 3 times

Symptomatic Hyperammonemia With Erwinia chrysanthemi-derived Asparaginase in Pediatric Leukemia Patients.

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Logáil Isteach / Cláraigh

Erwinia chrysanthemi-derived asparaginase is increasingly integral to acute lymphoblastic leukemia therapy. In our series, 16% of patients developed symptomatic hyperammonemia following Erwinia administration with symptoms including refractory nausea, vomiting, profound fatigue, malaise, and coma.

[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

Coma, hyperammonemia, metabolic acidosis, and mutation: lessons learned in the acute management of late onset urea cycle disorders.

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Logáil Isteach / Cláraigh

Urea cycle disorders are an important and treatable cause of hyperammonemia in the newborn and pediatric age group. Presentation in adolescence or adult life is rare and can manifest as frequent vomiting and behavioral changes. An inherited metabolic disorder should be considered in adults with

[Clinical diagnosis and treatment of three cases with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome].

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Logáil Isteach / Cláraigh

Objective: To study the clinical characteristics, methods of diagnosis and treatment of hyperornithinemia-hyperammonemia- homocitrullinuria (HHH) syndrome. Method: From July 2011 to August 2016, 3 Chinese patients with HHH syndrome were enrolled in this study. The clinical course, biochemical

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