Results 31 to 40 of about 1,894 (150)
Adult onset episodic encephalopathy due to citrin deficiency—A case report
Annals of Indian Academy of Neurology, 2023 Hyperammonemia is a rare cause of adult episodic encephalopathy. Citrin deficiency resulting in citrullinemia type 2 (CTLN2) can lead to recurrent delirium in adults.
Dipti Baskar +11 more
doaj +1 more source
Evaluation of the Neurodevelopmental Status for Urea Cycle Disorders: Based on Clinical Experience
Journal of Pediatric Research, 2023 Aim:Urea cycle disorders (UCD) still have poor neurological outcomes despite early diagnosis and treatment. We aimed to present the neurological outcomes of UCD patients and to determine the main simple and accessible factors affecting these outcomes ...
Ayşe Ergül Bozacı +7 more
doaj +1 more source
Targeted breast milk modification: A low-cost feeding option in young infants with citrullinemia
Indian Pediatrics Case Reports, 2021 Background: The management of urea cycle disorders (UCDs) needs use of nitrogen scavenger drugs and protein restricted special formulas. The latter is not easily accessible and expensive. Continued breastfeeding is poorly tolerated by most babies.
Saikat Patra +3 more
doaj +1 more source
Asymptomatic ASS1 carriers with high blood citrulline levels
Molecular Genetics & Genomic Medicine, 2022 Introduction Citrullinemia Type 1 (CTLN1) is an autosomal recessive disorder caused by variants in the ASS1 gene. This study intends to clarify the etiology of false positives in newborn screening for citrullinemia. Method Newborns who had elevated dried‐
Hui‐An Chen +8 more
doaj +1 more source
Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report. [PDF]
Clin Case RepABSTRACT Monilethrix is a rare genetic disorder characterized by sparse, brittle hair, primarily affecting the scalp, although it may also affect other parts of the body. Trichorrhexis nodosa (TN) is another hair shaft disorder characterized by brittle and fragile hair shafts. Concurrence of monilethrix and TN is exceedingly rare.
Dehghan Y, Sepaskhah M.
europepmc +2 more sources
Clinical Case Reports, 2023 Key Clinical Message The perioperative control of ammonia, reduction of stress, and administration of drugs tolerated in type 1 citrullinemia and Brugada pattern allowed the successful and uneventful management of general anesthesia in the study patient.
Fabio Dell’Olio +8 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2021 Summary: We describe a case of a 21 years old woman affected by Citrullinemia type 1- Arginosuccinate Synthase deficiency (ASSD)-who underwent a SARS CoV2 infection during the first phase of pandemic burst in Italy. She had no symptoms of infection nor a
N. Vitturi +4 more
doaj +1 more source
JIMD Reports, 2022 Citrullinemia type 1 is an autosomal recessive metabolic disease caused by ASS1 gene mutations encoding argininosuccinic acid synthetase enzyme which is within the pathway of arginine and nitric oxide biosynthesis.
Shirin Moarefian +4 more
doaj +1 more source
Citrullinemia is a suitable biomarker for post weaning performance in piglets under intensive farming [PDF]
, 2023 OBJECTIVE To describe citrullinemia profiles during the weaning transition and correlate citrulline production with stress and growth in a commercial pig farm.
Amanto, Andres Fabian +5 more
core +1 more source
International Journal of Neonatal Screening, 2018 Citrullinemia is the earliest identifiable biochemical abnormality in neonates with intrahepatic cholestasis due to a citrin deficiency (NICCD) and it has been included in newborn screening panels using tandem mass spectrometry. However, only one neonate
Hiroko Shigetomi +3 more
doaj +1 more source