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.2001.113264DOI Listing

Publication Analysis

Top Keywords

infantile cholestatic
12
adult-onset type
12
type citrullinemia
12
cholestatic jaundice
8
slc25a13 gene
8
jaundice associated
4
associated adult-onset
4
citrullinemia adult-onset
4
citrullinemia characterized
4
characterized liver-specific
4

Similar Publications

Infantile Cholestatic Jaundice: A Variant of Niemann-Pick Disease Type C2.

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 PDF

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).

View Article and Find Full Text PDF

Novel PLEC variants associated with infantile cholestasis.

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 PDF

Simple biliary atresia score-a validated diagnostic aid for infantile cholestasis.

Pediatr 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 PDF

Natural history of deoxyguanosine kinase deficiency.

Mol 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:

Article Synopsis
  • Deoxyguanosine kinase deficiency is a genetic disorder that causes mitochondrial DNA depletion syndrome with three main symptoms: hepatocerebral disease, isolated liver disease, and myopathy.
  • In a study reviewing 173 cases, most patients experienced severe neonatal/infantile-onset hepatocerebral disease, with a grim one-year survival rate of just 11%, and high risk of death associated with certain genetic variants.
  • The research highlights the urgency for early intervention, as the disease progresses rapidly, indicated by a median onset age of 1 month and median death age of 6.5 months for the most severe phenotype.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!