Related Experiment Video

Updated: Jan 19, 2026

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
05:56

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

Published on: August 29, 2025

441

Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1

Eun Sang Rhee1, Yu Bin Kim1, Sunghee Lee1

  • 1Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

Pediatric Gastroenterology, Hepatology & Nutrition
|September 27, 2019
PubMed

Insights

Progressive familial intrahepatic cholestasis (PFIC) type 1 is a severe genetic liver disorder. This report details novel mutations in a Korean patient, highlighting the importance of genetic testing for rare diseases.

Area of Science:

  • Hepatology
  • Medical Genetics
  • Pediatric Gastroenterology

Background:

  • Progressive familial intrahepatic cholestasis (PFIC) comprises severe genetic disorders causing liver dysfunction.
  • PFIC necessitates early diagnosis and management to prevent cirrhosis and liver failure.

Observation:

  • A Korean pediatric patient presented with intrahepatic cholestasis, steatorrhea, and growth failure.
  • Serum gamma-glutamyl transferase levels were notably normal, atypical for cholestasis.

Findings:

  • Novel compound heterozygous mutations, p.Glu585Ter and p.Leu749Pro, were identified in the ATP8B1 gene.
  • This represents the first documented case of PFIC type 1 with these specific mutations in Korea.

Implications:

  • Early genetic identification of PFIC type 1 is crucial for timely intervention.
  • Understanding these novel mutations advances knowledge of ATP8B1 function in cholestasis.
  • Post-liver transplant complications like steatohepatitis require further investigation in PFIC patients.

Keywords:
ATP8B1ChildIntrahepatic cholestasis

More Related Videos

Lentiviral Vector-mediated Gene Therapy of Hepatocytes Ex Vivo for Autologous Transplantation in Swine09:54

Lentiviral Vector-mediated Gene Therapy of Hepatocytes Ex Vivo for Autologous Transplantation in Swine

Published on: November 4, 2018

8.5K
Isolation of Neonatal Extrahepatic Cholangiocytes07:54

Isolation of Neonatal Extrahepatic Cholangiocytes

Published on: June 5, 2014

10.8K

Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
730
ATP Synthase: Structure01:18

ATP Synthase: Structure

ATP synthase or ATPase is among the most conserved proteins found in bacteria, mammals, and plants. This enzyme can catalyze a forward reaction in response to the electrochemical gradient, producing ATP from ADP and inorganic phosphate. ATP synthase can also work in a reverse direction by hydrolyzing ATP and generating an electrochemical gradient. Different forms of ATP synthases have evolved special features to meet the specific demands of the cell. Based on their specific feature, ATP...
15.2K
ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased...
16.8K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
699
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.4K
Translation01:31

Translation

Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
17.5K