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citrullinemia/bjúgur
Krækjan er vistuð á klemmuspjaldið
Bls 1 frá 19 niðurstöður
[Type II citrullinemia triggered by acetaminophen].
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We report a 19-year-old man with type II citrullinemia triggered by the administration of acetaminophen when he caught a cold. He was admitted to our hospital of impairment of consciousness and abnormal behaviors. On admission he was comatose and laboratory data revealed respiratory alkalosis which
Neonatal citrullinemia: comparison of conventional MR, diffusion-weighted, and diffusion tensor findings.
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Conventional MR, diffusion-weighted, and diffusion tensor imaging were performed in an 8-day-old girl with citrullinemia. She had severe hyperammonemia for several days. On conventional T2-weighted MR images, symmetric, confluent high signal intensity was found in the bilateral thalami, basal
Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2).
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OBJECTIVE
We report a risk of worsening of encephalopathy by glycerol infusion when this osmotic agent is used for the treatment of brain edema in patients with adult-onset type II citrullinemia (CTLN2) caused by citrin deficiency.
METHODS
We performed a retrospective investigation of 3 patients
[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
Three cases of adult-onset type II citrullinemia treated with different therapies: Efficacy of sodium pyruvate and low-carbohydrate diet.
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We report three cases of adult-onset type II citrullinemia (CTLN2) treated with different therapies including one case successfully treated with p.o. administration of sodium pyruvate and low-carbohydrate diet. Although recent advances in liver transplantation have enabled successful treatment of
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
Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia.
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BACKGROUND
Citrin, encoded by SLC25A13, is a component of the malate-aspartate shuttle, which is the main NADH-transporting system in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD), which usually resolves within the first year of life. However, small numbers of adults
[Adult-onset citrullinemia].
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Adult-onset citrullinemia (CTLN2) is a rare hereditary metabolic disorder characterized by highly increased concentration of citrulline and ammonia in the plasma, which is ascribed to a deficiency of argininosuccinate synthetase (ASS), one of the urea cycle enzymes mainly located in the liver.
[Adult-onset citrullinemia].
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Adult-onset citrullinemia (CTLN2) is a rare hereditary metabolic disorder characterized by highly increased concentration of citrulline and ammonia in the plasma, which is ascribed to a deficiency of argininosuccinate synthetase (ASS), one of the urea cycle enzymes mainly located in the liver.
[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
[An autopsy case of citrullinemia type II complicated with chronic pancreatitis].
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A 34-year-old woman had developed frequent episodes of disorientation at night since a year ago. Her blood ammonia level was found to be markedly increased. Serum amino acid pattern and biochemical analysis of urea cycle enzymes in the liver indicated type II citrullinemia. Pancreatolithiasis was
[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
Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia.
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The authors present a case of citrullinemia with a genotype of argininosuccinate synthetase (ASS1), c.380 G>A (p.R127Q)/c.380 G>A (p.R127Q), in two alleles. A 3-day-old female infant presented with status epilepticus and coma. Laboratory data showed hyperammonemia and marked lactic acidosis in the
A patient with adult-onset type II citrullinemia on long-term hemodialysis: reversal of clinical symptoms and brain MRI findings.
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A 40-year-old woman was referred for several episodes of coma lasting from 2 hours to 2 days. She had been on maintenance hemodialysis for polycystic kidney disease for 9 months. Laboratory findings showed high serum levels of ammonia and citrulline, and a diagnosis of adult-onset type II
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
Heillasta gagnagrunnur lækningajurtanna sem studdur er af vísindum
- Virkar á 55 tungumálum
- Jurtalækningar studdir af vísindum
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Sláðu inn einkenni eða sjúkdóm og lestu um jurtir sem gætu hjálpað, sláðu jurt og sjáðu sjúkdóma og einkenni sem hún er notuð við.
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