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

Urine Studies I: Urinalysis01:29

Urine Studies I: Urinalysis

Urinalysis is a widely used diagnostic test that analyzes urine's physical, chemical, and microscopic characteristics. Healthcare providers use it to detect and monitor various health conditions, including renal disease, urinary tract infections (UTIs), diabetes, and metabolic or systemic disorders.Components of UrinalysisUrinalysis consists of three primary components: physical, chemical, and microscopic examination. Each provides unique insights into the urine sample and, by extension, the...
Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
Urine Studies II: Urine Culture and Sensitivity Test01:26

Urine Studies II: Urine Culture and Sensitivity Test

A urine culture and sensitivity test is a diagnostic procedure used to identify urinary tract bacterial infections and determine the most effective antibiotics for treatment. This test is generally preferred when a patient shows manifestations of a urinary tract infection, such as frequent or painful urination, cloudy or foul-smelling urine, or lower abdominal pain.Purpose of the TestThe primary goals of a urine culture and sensitivity test are to:Determine the specific bacteria causing the...
Rocky Mountain Spotted Fever01:26

Rocky Mountain Spotted Fever

Rocky Mountain Spotted Fever (RMSF) is a severe tick-borne illness caused by Rickettsia rickettsii, a Gram-negative, coccobacillary bacterium. This pathogen is an obligate intracellular parasite, requiring a host cell for replication. Transmission occurs through the bite of an infected tick. In the United States, the most important vectors are Dermacentor variabilis (American dog tick) and Dermacentor andersoni (Rocky Mountain wood tick), though other tick species may also serve as vectors.
Diabetes Insipidus I: Introduction01:29

Diabetes Insipidus I: Introduction

Definition Diabetes insipidus is a disorder marked by the production of large amounts of dilute urine because of impaired vasopressin production, release, or kidney response. The lack of effective vasopressin action limits water reabsorption in the renal collecting ducts, which leads to excessive urinary water loss and intense thirst.Clinical PresentationIndividuals with diabetes insipidus report persistent thirst and very high urine output. In severe cases, fluid intake can reach up to 20...
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...

You might also read

Related Articles

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

Sort by
Same author

[Selective termination of pregnancy for monochorionic twins: a national survey of professional practice].

Gynecologie, obstetrique & fertilite·2014
Same author

Spin-correlations and magnetic structure in an Fe monolayer on 5d transition metal surfaces.

Journal of physics. Condensed matter : an Institute of Physics journal·2014
Same author

Cryosclerosis. A forgotten endovenous procedure for treating the incompetence of the great saphenous vein. Short term results.

International angiology : a journal of the International Union of Angiology·2014
Same author

[Nasal dermal sinus in children: a review based on a series of 6 cases].

Neuro-Chirurgie·2014
Same author

Alternatives approaches to the sub-occipital transtentorial route for pineal tumors: How and when I do it?

Neuro-Chirurgie·2014
Same author

Nutritional differences between a gluten-free diet and a diet containing equivalent products with gluten.

Plant foods for human nutrition (Dordrecht, Netherlands)·2014

Related Experiment Video

Updated: Jul 19, 2026

High-throughput and Comprehensive Drug Surveillance Using Multisegment Injection-Capillary Electrophoresis-Mass Spectrometry
10:17

High-throughput and Comprehensive Drug Surveillance Using Multisegment Injection-Capillary Electrophoresis-Mass Spectrometry

Published on: April 23, 2019

Variant maple syrup urine disease (MSUD)--the entire spectrum.

E Simon1, N Flaschker, P Schadewaldt

  • 1Department of General Paediatrics, University Children's Hospital, Heinrich-Heine University, Moorenstr. 5, D-40225, Düsseldorf, Germany. simon@med.uni-duesseldorf.de

Journal of Inherited Metabolic Disease
|October 26, 2006
PubMed
Summary

Variant maple syrup urine disease (MSUD) presents a spectrum of severity, from asymptomatic to severe. Early diagnosis and treatment are crucial for all patients with variant MSUD, not just newborns.

More Related Videos

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

CRISPR-Cas-mediated Multianalyte Synthetic Urine Biomarker Test for Portable Diagnostics
04:33

CRISPR-Cas-mediated Multianalyte Synthetic Urine Biomarker Test for Portable Diagnostics

Published on: December 8, 2023

Related Experiment Videos

Last Updated: Jul 19, 2026

High-throughput and Comprehensive Drug Surveillance Using Multisegment Injection-Capillary Electrophoresis-Mass Spectrometry
10:17

High-throughput and Comprehensive Drug Surveillance Using Multisegment Injection-Capillary Electrophoresis-Mass Spectrometry

Published on: April 23, 2019

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

CRISPR-Cas-mediated Multianalyte Synthetic Urine Biomarker Test for Portable Diagnostics
04:33

CRISPR-Cas-mediated Multianalyte Synthetic Urine Biomarker Test for Portable Diagnostics

Published on: December 8, 2023

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder.
  • Accumulation of branched-chain amino acids (BCAAs) causes brain dysfunction.
  • Variant MSUD affects approximately 20% of patients with varying clinical severity.

Purpose of the Study:

  • To provide a comparative description of 16 individuals with different forms of variant MSUD.
  • To analyze clinical presentation, treatment, and outcomes in variant MSUD.
  • To understand the spectrum of severity in non-classic MSUD.

Main Methods:

  • Retrospective analysis of laboratory data, clinical course, and treatment.
  • Inclusion of developmental, intellectual, and social outcome data.
  • Utilized in vitro and in vivo methods to assess enzyme deficiency.

Main Results:

  • Identified distinct phenotypes: intermittent, intermediate, and a potential asymptomatic variant.
  • The intermediate variant ranges from mild to almost classic forms.
  • Biochemical parameters do not clearly differentiate these clinical phenotypes.

Conclusions:

  • A continuum of clinical severity exists in variant MSUD, from asymptomatic to severe.
  • Early diagnosis and treatment benefit all individuals with variant MSUD, including newborns.
  • Understanding the spectrum of variant MSUD aids in clinical management.