Adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene. Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. Adult-onset type II citrullinemia may be associated with infantile cholestatic disease.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1067/mpd.2001.113264 | DOI Listing |
Cureus
September 2024
Paediatrics, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND.
Niemann-Pick disease is an autosomal recessive lysosomal lipid storage disorder disease caused by mutations in either Niemann-Pick disease type C1 (NPC1) or the NPC2 gene. It has a wide range of symptoms that vary in severity, classified into three main types: A, B, and C1 and C2, based on genetics and the symptoms and signs. The usual presentation in the neonatal period is cholestatic jaundice, subsequently, it will develop hepatosplenomegaly in infancy, failure to thrive, ataxia, hypotonia, seizure, difficulty in speech, swallowing, and recurrent respiratory tract infection.
View Article and Find Full Text PDFPediatr Surg Int
August 2024
Division of Paediatric Surgery, Department of Surgery, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.
Purpose: Early diagnosis of biliary atresia (BA) is critical for best outcomes, but is challenged by overlapping clinical manifestations with other causes of obstructive jaundice in neonates. We evaluate the performance of the modified Simple BA Scoring System (SBASS) in diagnosing BA.
Methods: We performed a prospective, cross-sectional study on infants with cholestatic jaundice (June 2021-December 2022).
Clin Genet
December 2024
Division of Gastroenterology and Hepatology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
Plectin is a cytoskeletal linker of intermediate filaments, encoded by the PLEC gene. Recently, plectin mutations have been identified in a pair of siblings with progressive familial intrahepatic cholestasis. Here, we reported two unrelated infants with plectinopathy causing cholestatic jaundice with novel variants in the PLEC gene.
View Article and Find Full Text PDFPediatr Surg Int
July 2024
Department of Pediatric Surgery, KK Women's and Children's Hospital, No. 100, Bukit Timah Road, Singapore, 229899, Singapore.
Purpose: The workup of jaundiced infants may be variable and protracted, thereby delaying the diagnosis and timely intervention for biliary atresia (BA). This potentially leads to inferior outcomes. We developed a practical score to stratify infantile cholestasis according to the risk of having BA.
View Article and Find Full Text PDFMol Genet Metab
October 2024
Department of Metabolic Medicine, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, United Kingdom; UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom. Electronic address:
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!