Related Experiment Video

Updated: May 30, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Manifestations and evolution of Wilson disease in pediatric patients carrying ATP7B mutation L708P

Luis Peña-Quintana1, María R García-Luzardo, Luis García-Villarreal

  • 1Departamento de Ciencias Clínicas, Universidad de Las Palmas de Gran Canaria, Spain.

Journal of Pediatric Gastroenterology and Nutrition
|August 12, 2011
PubMed

Insights

This study characterized pediatric Wilson disease (WD) patients in Gran Canaria, finding a homogeneous genetic background with a prevalent L708P mutation. All patients showed liver damage but no neurological symptoms, responding well to D-penicillamine treatment.

Area of Science:

  • Genetics and Hepatology
  • Rare pediatric diseases
  • Molecular diagnostics

Background:

  • Wilson disease (WD) is a rare genetic disorder of copper metabolism.
  • Understanding WD's genetic and clinical spectrum is crucial for early diagnosis and management.
  • Pediatric WD cases often present unique challenges in diagnosis and treatment.

Purpose of the Study:

  • To characterize a cohort of 11 pediatric Wilson disease patients from Gran Canaria.
  • To investigate the genetic, biochemical, and pathological features of these patients.
  • To analyze treatment response and clinical evolution in a genetically homogeneous WD group.

Main Methods:

  • Genetic analysis to identify mutations in the ATP7B gene.
  • Biochemical assays including serum ceruloplasmin and copper levels.
  • Hepatic copper content determination and clinical assessment of liver damage.

Main Results:

  • High prevalence of the L708P mutation in the ATP7B gene among patients.
  • All patients exhibited liver damage, with no neurological manifestations observed.
  • Effective treatment response to D-penicillamine with no adverse reactions.

Conclusions:

  • The Gran Canaria WD cohort represents a significant group with a high incidence of the L708P mutation.
  • This homogeneity aids in defining early clinical symptoms and disease evolution in carriers of the ATP7B L708P allele.
  • The study provides insights into Wilson disease in a genetically uniform population.
Abstract

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Related Concept Videos

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,...
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...
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
Pedigree Analysis01:35

Pedigree Analysis

Overview
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...