citrullinemia/نوبة

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A patient with type II citrullinemia who developed refractory complex seizure.

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A 31-year-old Japanese male was admitted to our hospital for refractory complex seizures. He had no history on medical or psychiatric illness. He began to exhibit aberrant behavior accompanied by cloudiness of consciousness. Thereafter, he exhibited partial seizures followed by a twilight state or

[Clinical investigation and mutation analysis of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia].

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OBJECTIVE To analyze the clinical features and SLC25A13 gene mutations of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia. METHODS The patient was subjected to physical examination and routine laboratory tests. Blood amino acids and acylcarnitines, and

Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis.

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A 16-month old boy was referred to our hospital for evaluation of recurrent generalized tonic clonic seizures. Metabolic evaluation revealed significant hyperammonemia (1,112 microg/dl). Amino acid/acylcarnitine screening using tandem mass spectrometry showed markedly increased plasma levels of

Citrullinemia presenting as uncontrollable epilepsy.

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We report the case of a 16-year-old girl with a variant form of citrullinemia who had been treated with anticonvulsants for uncontrolled epilepsy during the last 4 years. The diagnosis of citrullinemia was made because she had elevated values for serum citrulline (about 10 times control levels),

[Severe fulminant form of neonatal citrullinemia. Report of a case].

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BACKGROUND Citrullinemia is an autosomal recessive disease, which is caused by a deficiency of the argininosuccinate synthetase. The neonatal forms are serious and many times are associated with a high level of mortality. METHODS A newborn that came in again on her third day of life due to a apneic

A case of adult-onset type II citrullinemia--deterioration of clinical course after infusion of hyperosmotic and high sugar solutions.

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BACKGROUND Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disorder caused by mutations of SLC25A13 gene encoding citrin and is characterized by recurrent encephalopathy with hyperammonemia. Factors affecting disease progression remain unknown. We report a case with CTLN2, whose

Citrullinemia Type 1: Behavioral Improvement with Late Liver Transplantation.

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Citrullinemia Type 1 (also known as classic citrullinemia) is a rare autosomal recessive urea cycle disorder due to reduced activity of argininosuccinate synthetase 1; characterized by hyperammonemia leading to neurological damage. The authors report a case of an 8-y boy who was diagnosed with

[An autopsied case of type II citrullinemia--transient effectiveness with either citrate or benzoate to the consciousness disturbance].

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A 44-year-old man suffered from repeated impairment of consciousness associated with flapping tremor, myoclonus and generalized convulsions, and died in coma 6 months after admission. He had had a psychosomatically underdeveloped childhood, with a propensity for legumes without a family history of

Transient fulminant liver failure as an initial presentation in citrullinemia type I.

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Citrullinemia type I (CTLN1) is a urea cycle disorder which typically presents in the neonatal period or infancy with hyperammonemia and concurrent neurologic deterioration. We report a 15-month-old female with CTLN1 who presented with encephalopathy and seizures with hyperammonemia requiring

[Adverse effects of branched chain amino acid transfusion on type-II citrullinemia--report of an adult case].

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A 24-year-old man was admitted to our hospital, because two days before the admission he had abruptly lost consciousness following generalized convulsive seizures. He had a past history of transient amnesia and a favor for peanuts. His grandparents had a record of consanguinity. On admission, he was

The EEGs of infants with citrullinemia.

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Three female infants with citrullinemia were followed clinically, biochemically and by electroencephalography. All three had episodes of vomiting, lethargy and hyperammonemia shortly after birth. The two more severe cases developed convulsions. They were saved by peritoneal dialysis, or repeated

Citrulline and ammonia accumulating in citrullinemia reduces antioxidant capacity of rat brain in vitro.

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Citrullinemia is an inborn error of the urea cycle caused by deficient argininosuccinate synthetase, which leads to accumulation of L-citrulline and ammonia in tissues and body fluids. The main symptoms include convulsions, tremor, seizures, coma, and brain edema. The pathophysiology of the

30-year follow-up of a patient with classic citrullinemia.

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Citrullinemia is a urea cycle defect requiring long-term care with nutritional and pharmacological management. Despite treatment, morbidity and mortality of this disease remain high, and long-term complications include mild to profound mental retardation, seizures, and growth deficiency. We report a

[A patient with neonatal citrullinemia].

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In a four days old neonate, showing feeding difficulties, temperature imbalance, convulsions and coma, citrullinaemia was diagnosed. Subsequent treatment, consisting of protein-restriction, exchange transfusions, arginine suppletion and using an alternative pathway for waste nitrogen excretion

[Treatment of citrullinemia. Apropos of a case followed from birth. Importance of alpha-ketonic acids].

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From day 1 to day 3, the protein intake of this neonate was restricted to 1 g/kg/d. It included a) essential amino acids (i.e. histidine, lysine, threonine, tryptophan), b) arginine (1,000 mg/d), c) alphaketoisovaleric 500 mg/d, alpha-ketoisocaproic (500 mg/d), alphaketobetamethylvaleric (500 mg/d),

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