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
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,
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
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 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
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
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 (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.
The most complete medicinal herbs database backed by science
Works in 55 languages
Herbal cures backed by science
Herbs recognition by image
Interactive GPS map - tag herbs on location (coming soon)
Read scientific publications related to your search
Search medicinal herbs by their effects
Organize your interests and stay up do date with the news research, clinical trials and patents
Type a symptom or a disease and read about herbs that might help, type a herb and see diseases and symptoms it is used against. *All information is based on published scientific research