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

985
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...
985
Chronic Pancreatitis II: Collaborative Care01:29

Chronic Pancreatitis II: Collaborative Care

456
The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
Assessment:
456
Loss of Carboxy Group as CO2: Decarboxylation of Malonic Acid Derivatives01:35

Loss of Carboxy Group as CO2: Decarboxylation of Malonic Acid Derivatives

2.8K
Just like β-keto acids—which upon thermal decarboxylation form ketones—β-dicarboxylic acids undergo decarboxylation to generate monocarboxylic acids with the liberation of carbon dioxide.
2.8K
Mania and Antimanic Drugs: Overview01:24

Mania and Antimanic Drugs: Overview

732
Mania, a psychological condition characterized by elevated mood, increased energy, and reduced sleep need, is part of the bipolar disorder cycle. The exact cause of mania isn't entirely known, but it is thought to be a combination of genetic, environmental, and neurological factors. Bipolar disorder involves alternating manic and depressive episodes. Mood stabilizers like lithium, antipsychotics, and anticonvulsants help manage these episodes. Lithium carbonate is particularly effective as...
732
Myocarditis IV: Nursing Management01:22

Myocarditis IV: Nursing Management

336
Myocarditis is an inflammatory condition of the myocardium requiring meticulous nursing management for optimal patient outcomes. Effective management begins with a thorough assessment of the patient's medical history, paying close attention to past infections, autoimmune disorders, travel history, and exposure to toxins or drugs. Recent viral infections and systemic diseases are particularly relevant due to their potential role in triggering myocarditis.Physical Examination and MonitoringThe...
336
Biosynthesis of Nucleic Acids01:28

Biosynthesis of Nucleic Acids

1.4K
Nucleic acid biosynthesis is a fundamental biochemical process that produces the purine and pyrimidine nucleotides essential for DNA and RNA synthesis. This pathway maintains a balanced nucleotide pool, preventing imbalances that could jeopardize genetic integrity and cellular function. Given the crucial role of nucleotides, their synthesis is tightly regulated to ensure proper cellular homeostasis.Purine BiosynthesisThe biosynthesis of purine nucleotides begins with ribose-5-phosphate, a...
1.4K

You might also read

Related Articles

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

Sort by
Same author

Adeno-Associated Virus Gene Therapy Translation: Lessons from Early Regulatory Meetings.

Human gene therapy·2026
Same author

Rigorous genetic diagnosis review in natural history studies.

Orphanet journal of rare diseases·2026
Same author

Optimization of systemic AAV9 gene therapy in Niemann-Pick disease, type C1 mice.

Life science alliance·2026
Same author

Non-invasive tracking of rAAV-mediated gene expression in the liver through a genetically encoded MRI reporter gene.

Molecular therapy : the journal of the American Society of Gene Therapy·2025
Same author

Dissecting the effect of mitochondrial BCAT inhibition in methylmalonic acidemia.

JCI insight·2025
Same author

Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism.

Human molecular genetics·2025
Same journal

For health, for beauty, or both? navigating trends as adolescent clinicians.

Current opinion in pediatrics·2026
Same journal

Childhood sleep disorders: practical management for the pediatrician.

Current opinion in pediatrics·2026
Same journal

Advanced therapies in management of pediatric inflammatory bowel disease.

Current opinion in pediatrics·2026
Same journal

Artificial intelligence in pediatric endoscopy for hereditary polyposis syndromes: promises and challenges.

Current opinion in pediatrics·2026
Same journal

Hormonal acne therapies in pediatrics.

Current opinion in pediatrics·2026
Same journal

Clinical implementation of artificial intelligence in adolescent mental healthcare.

Current opinion in pediatrics·2026
See all related articles

Related Experiment Video

Updated: Mar 14, 2026

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
03:19

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes

Published on: June 28, 2024

834

Methylmalonic and propionic acidemias: clinical management update.

Jamie L Fraser1, Charles P Venditti

  • 1aDivision of Genetics and Metabolism, Children's National Medical Center, Washington, District of Columbia bMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

Current Opinion in Pediatrics
|September 23, 2016
PubMed
Summary
This summary is machine-generated.

Methylmalonic acidemia (MMA) and propionic acidemia cause significant injury despite current treatments. Even with liver transplants, complications like brain injury persist, necessitating improved management strategies.

More Related Videos

Quantification of Coenzyme A in Cells and Tissues
08:51

Quantification of Coenzyme A in Cells and Tissues

Published on: September 27, 2019

9.0K
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

13.6K

Related Experiment Videos

Last Updated: Mar 14, 2026

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
03:19

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes

Published on: June 28, 2024

834
Quantification of Coenzyme A in Cells and Tissues
08:51

Quantification of Coenzyme A in Cells and Tissues

Published on: September 27, 2019

9.0K
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

13.6K

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Medicine

Background:

  • Organic acidemias, including methylmalonic acidemia (MMA) and propionic acidemia, are inherited metabolic disorders.
  • Current management guidelines aim to improve health and quality of life but face challenges in preventing significant morbidity and mortality.
  • Systemic and end-organ injury, particularly metabolic brain injury, remains a critical concern.

Purpose of the Study:

  • To review current clinical studies and management guidelines for MMA and propionic acidemia.
  • To identify limitations in existing therapeutic interventions.
  • To highlight areas for improved patient screening and anticipatory management of progressive diseases.

Main Methods:

  • Review of recent clinical studies and management guidelines.
  • Analysis of treatment outcomes, including dietary management and liver transplantation.
  • Evaluation of persistent complications despite therapeutic interventions.

Main Results:

  • Dietary management with medical foods is a cornerstone but does not prevent all complications.
  • Metabolic brain injury, affecting specific basal ganglia regions, can occur even with optimal management.
  • Liver transplantation improves metabolic stability and quality of life but does not fully prevent brain injury or other specific complications like optic neuropathy and cardiac disease.

Conclusions:

  • Management guidelines need enhancement for patient screening and anticipatory care of end-organ disease.
  • Liver transplantation offers benefits but does not mitigate injury to nonregenerative tissues.
  • Further prospective studies are required to validate the benefits of continued medical food use in controlled settings.