Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Inborn Errors of Metabolism

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...

Protein Import into the Peroxisomes

Protein Import into the Peroxisomes

Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...

Genetic Lingo

Genetic Lingo

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Lethal Alleles

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

Pharmacokinetics in Pediatric Patients: Drug Metabolism

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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Early Oxygenation Trajectory and Noninvasive Ventilation Failure in Non-Immunocompromised Children With Pediatric ARDS.

Pediatric pulmonology·2026

Same author

Real-world pegcetacoplan treatment of paroxysmal nocturnal hemoglobinuria patients with an unsatisfactory response to prior therapies.

Hematology (Amsterdam, Netherlands)·2026

Same author

Within-pair analysis of monozygotic twins after bariatric surgery: a systematic review.

Obesity surgery·2026

Same author

Colonization Dynamics of <i>Clostridioides difficile</i> in Suckling and Weaning Piglets.

Veterinary sciences·2026

Same author

Impact of Ser81 phosphorylation on alanine: glyoxylate aminotransferase associated with Primary hyperoxaluria type I.

Molecular biomedicine·2026

Same author

Editorial: Digital transformation in sports coaching-enhancing coach learning and athlete development.

Frontiers in sports and active living·2026

Search research articles

Related Experiment Video

Updated: Jun 12, 2026

Biochemical Measurement of Neonatal Hypoxia

Biochemical Measurement of Neonatal Hypoxia

Published on: August 24, 2011

Primary hyperoxaluria in a compound heterozygote infant.

Juan Mayordomo-Colunga¹, Debora Riverol, Eduardo Salido

¹Pediatric Nephrology, Department of Pediatrics, Hospital Universitario Central de Asturias & University of Oviedo, Oviedo, Spain. jmcolunga@hotmail.com

World Journal of Pediatrics : WJP

|June 16, 2010

Summary

Infantile primary hyperoxaluria type 1 (PH1) is a severe genetic disorder. Early diagnosis and recognition of nephrocalcinosis are crucial for managing this rare condition in infants.

More Related Videos

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

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

Published on: August 15, 2019

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

Related Experiment Videos

Last Updated: Jun 12, 2026

Biochemical Measurement of Neonatal Hypoxia

Biochemical Measurement of Neonatal Hypoxia

Published on: August 24, 2011

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

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

Published on: August 15, 2019

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

Area of Science:

Genetics
Metabolic Disorders
Pediatric Nephrology

Background:

Primary hyperoxaluria type 1 (PH1) is a rare genetic metabolic disorder affecting glyoxylate metabolism in the liver.
Infantile presentations of PH1 are uncommon and frequently lead to rapid progression to end-stage renal failure.

Observation:

A 4-month-old infant presented with acute renal failure and nephrocalcinosis.
Genetic analysis confirmed compound heterozygosity for mutations in the alanine-glyoxylate aminotransferase gene, indicative of PH1.

Findings:

The infant's condition deteriorated rapidly, resulting in death.
The case highlights the severe prognosis of infantile PH1, especially with compound heterozygous mutations.

Implications:

This case underscores the diagnostic significance of nephrocalcinosis and urolithiasis in infantile PH1.
Early identification and management strategies are critical for improving outcomes in severe pediatric kidney diseases.