citrullinemia/uppköst

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Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant.

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Citrullinemia type I (CTLN1) is an inherited urea cycle disorder, now included in most newborn screening panels in the US and Europe. Due to argininosuccinate synthetase deficiency, CTLN1 can lead to recurrent hyperammonemic crisis that may result in permanent neurologic sequelae. Vomiting in

Skin, hair and nail changes in a case of citrullinemia with late manifestation.

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We report the case of a 56-year-old woman with a history of episodes of vomiting and coma. Hyperammoniemia , hypouremia , hypercitrullinemia and the decreased arginino -succinic synthetase activity on skin fibroblast cultures permitted us to diagnose citrullinemia. We think that the skin changes,

Chronic pancreatitis and pancreatic pseudocyst with adult-onset type II citrullinemia.

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Citrin deficiency, which is caused by a mutation of SCL25A13, can manifest in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) and in adults as recurrent hyperammonemia with neuropsychiatric symptoms in adult-onset type II citrullinemia (CTLN2). FTTDCD and

[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

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

Perinatal pathology casebook.

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Citrullinemia, a rare inborn error of metabolism, is characterized by a deficiency of argininosuccinic acid synthetase that results in large increases in plasma ammonia, citrulline, and glutamine, with normal acid-base balance. The neurologic symptoms vary from poor feeding, vomiting, and

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

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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

Urea cycle disorders in Thai infants: a report of 5 cases.

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Urea Cycle Disorders (UCD) is an inborn error of urea synthesis in which ammonium and other nitrogenous precursors of urea accumulate leading to episodic coma and a high mortality rate. Therapy with peritoneal dialysis, essential amino acids or their nitrogen-free analogues has increased survival.

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