Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

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...
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility, suggesting a...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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...
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...

You might also read

Related Articles

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

Sort by
Same author

Artificial intelligence-enabled integration of real-world clinical data to support clinical research: Operational design of the Regional Digital Medicine Center CMC SILESIA.

Kardiologia polska·2026
Same author

Electroencephalographic abnormalities and clinical phenotypes in children with autism spectrum disorder: a single center cohort study.

Frontiers in neurology·2026
Same author

Artificial Intelligence and Machine Learning in Pediatric Epilepsy: A Systematic Review.

Neurology and therapy·2026
Same author

Acute Disseminated Encephalomyelitis (ADEM): Current View into Etiopathogenesis and Clinical Features.

Brain sciences·2026
Same author

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review.

Metabolites·2026
Same author

The Influence of Pregnancy Risk Factors on Patterns of Sensory Processing Disorders and Motor Development.

Journal of clinical medicine·2025
Same journal

Cephalic tetanus progressing to generalized tetanus after facial trauma in an unvaccinated elderly patient: A case report.

Wiadomosci lekarskie (Warsaw, Poland : 1960)·2026
Same journal

Dynamics of ophthalmological symptoms due to vascular pathology of the central nervous system.

Wiadomosci lekarskie (Warsaw, Poland : 1960)·2026
Same journal

Mucous membrane pemphigoid with oral involvement: Two cases reports.

Wiadomosci lekarskie (Warsaw, Poland : 1960)·2026
Same journal

Patient autonomy and the right to refuse medical intervention: Medical and legal aspects.

Wiadomosci lekarskie (Warsaw, Poland : 1960)·2026
Same journal

A disciplinary alliance between obstetrics and infectious diseases: Building integrated perinatal safety systems.

Wiadomosci lekarskie (Warsaw, Poland : 1960)·2026
Same journal

It is everybody's right to be heard: Social exclusion and mental health.

Wiadomosci lekarskie (Warsaw, Poland : 1960)·2026
See all related articles

Related Experiment Video

Updated: Jun 19, 2026

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes
03:19

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Published on: June 28, 2024

Maternal phenylketonuria.

Justyna Paprocka1, Ewa Jamroz, Martyna Wiktor

  • 1Klinika Pediatrii i Neurologii Wieku Rozwojowego Slaskiego Uniwersytetu Medycznego w Katowicach. justyna.paprocka@interia.pl

Wiadomosci Lekarskie (Warsaw, Poland : 1960)
|October 13, 2009
PubMed
Summary
This summary is machine-generated.

Maternal phenylketonuria (MPKU) is a biochemical teratogenesis where high maternal phenylalanine levels harm fetal neurodevelopment. This study highlights two children diagnosed with MPKU, emphasizing the critical need for early detection and management of this condition.

More Related Videos

Concurrent Collection of Fetal Murine Brain and Serum to Assess Effects of Maternal Diet on Nutrition and Neurodevelopment in Neurofibromatosis Type 1
05:44

Concurrent Collection of Fetal Murine Brain and Serum to Assess Effects of Maternal Diet on Nutrition and Neurodevelopment in Neurofibromatosis Type 1

Published on: May 17, 2024

Stable Isotope In-Vivo Labeling for Mass-Spectrometry Identification of Paternal Metabolites Transferred from Sperm to Oocyte During Fertilization
05:55

Stable Isotope In-Vivo Labeling for Mass-Spectrometry Identification of Paternal Metabolites Transferred from Sperm to Oocyte During Fertilization

Published on: June 17, 2025

Related Experiment Videos

Last Updated: Jun 19, 2026

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes
03:19

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Published on: June 28, 2024

Concurrent Collection of Fetal Murine Brain and Serum to Assess Effects of Maternal Diet on Nutrition and Neurodevelopment in Neurofibromatosis Type 1
05:44

Concurrent Collection of Fetal Murine Brain and Serum to Assess Effects of Maternal Diet on Nutrition and Neurodevelopment in Neurofibromatosis Type 1

Published on: May 17, 2024

Stable Isotope In-Vivo Labeling for Mass-Spectrometry Identification of Paternal Metabolites Transferred from Sperm to Oocyte During Fertilization
05:55

Stable Isotope In-Vivo Labeling for Mass-Spectrometry Identification of Paternal Metabolites Transferred from Sperm to Oocyte During Fertilization

Published on: June 17, 2025

Area of Science:

  • Biochemistry
  • Developmental Biology
  • Genetics

Background:

  • Maternal phenylketonuria (MPKU) syndrome results from elevated maternal serum phenylalanine (>360 micromol/L).
  • Phenylalanine actively crosses the placenta, leading to 1.5-fold higher fetal blood concentrations.
  • High phenylalanine levels can disrupt critical fetal neurodevelopmental processes.

Observation:

  • Two children diagnosed with MPKU presented with characteristic clinical features.
  • Maternal phenylketonuria was suspected and diagnosed in mothers after their children's diagnosis.
  • One child experienced refractory epilepsy.

Findings:

  • Maternal average phenylalanine levels were extremely high, exceeding 1300 micromol/L.
  • Phenylalanine concentrations in affected children ranged from 117-160 micromol/L.
  • The study underscores the direct correlation between maternal and fetal phenylalanine levels.

Implications:

  • Early diagnosis of MPKU in infants is crucial for timely intervention.
  • Prenatal screening and maternal metabolic control are essential to prevent neurodevelopmental disorders.
  • Understanding MPKU's teratogenic effects can guide clinical management and improve outcomes for affected families.