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...
Amines to Sulfonamides: The Hinsberg Test01:23

Amines to Sulfonamides: The Hinsberg Test

The Hinsberg test is a method to identify primary, secondary and tertiary amines, named after its pioneer, Oscar Hinsberg. Here, amines are treated with benzenesulfonyl chloride, also known as the Hinsberg reagent, in the presence of an excess of aqueous base, followed by acidification. Based on the nature of the amines, different changes are observed.
Generally, a primary amine reacts with the Hinsberg reagent to produce an N-substituted benzenesulfonamide. The electron-withdrawing sulfonyl...

You might also read

Related Articles

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

Sort by
Same author

CFTR modulator monotherapy for people with cystic fibrosis with class II CFTR gene variants (most commonly F508del).

The Cochrane database of systematic reviews·2026
Same author

Lung transplant in people with cystic fibrosis and nontuberculous mycobacteria infection.

The Cochrane database of systematic reviews·2026
Same author

Digital technology for monitoring adherence to inhaled therapies in people with cystic fibrosis.

The Cochrane database of systematic reviews·2025
Same author

Non-invasive ventilation for cystic fibrosis.

The Cochrane database of systematic reviews·2025
Same author

Antibiotic treatment for non-tuberculous mycobacteria lung infection in people with cystic fibrosis.

The Cochrane database of systematic reviews·2025
Same author

Intravenous antibiotics for pulmonary exacerbations in people with cystic fibrosis.

The Cochrane database of systematic reviews·2025

Related Experiment Video

Updated: May 9, 2026

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

Newborn screening for homocystinuria.

John H Walter1, Nikki Jahnke, Tracey Remmington

  • 1Willink Biochemical Genetics Unit, Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Oxford Road, Manchester, UK, M13 9WL.

The Cochrane Database of Systematic Reviews
|August 3, 2013
PubMed
Summary
This summary is machine-generated.

Newborn screening for homocystinuria (a rare inherited disorder) lacks robust evidence from controlled trials. Uncontrolled studies suggest benefits, but more research is needed to confirm efficacy and cost-effectiveness.

More Related Videos

Biochemical Measurement of Neonatal Hypoxia
13:13

Biochemical Measurement of Neonatal Hypoxia

Published on: August 24, 2011

Uracil-DNA Glycosylase Assay by Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry Analysis
12:19

Uracil-DNA Glycosylase Assay by Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry Analysis

Published on: April 22, 2022

Related Experiment Videos

Last Updated: May 9, 2026

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

Biochemical Measurement of Neonatal Hypoxia
13:13

Biochemical Measurement of Neonatal Hypoxia

Published on: August 24, 2011

Uracil-DNA Glycosylase Assay by Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry Analysis
12:19

Uracil-DNA Glycosylase Assay by Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry Analysis

Published on: April 22, 2022

Area of Science:

  • Medical Genetics
  • Newborn Screening
  • Metabolic Disorders

Background:

  • Homocystinuria is a rare inherited metabolic disorder caused by cystathionine beta-synthase deficiency.
  • While infants appear normal at birth, severe complications arise in childhood if untreated.
  • Early diagnosis and intervention are crucial for preventing or mitigating these complications.

Purpose of the Study:

  • To evaluate the clinical benefits of newborn population screening for homocystinuria.
  • To compare outcomes of early diagnosis via screening versus later clinical diagnosis.

Main Methods:

  • Systematic review of randomized controlled trials (RCTs) and controlled clinical trials.
  • Searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Inborn Errors of Metabolism Trials Register.
  • Included studies assessed neonatal screening for homocystinuria versus non-screened populations.

Main Results:

  • No eligible randomized controlled trials or controlled clinical trials were identified for inclusion.
  • The review could not identify any studies meeting the inclusion criteria.

Conclusions:

  • Currently, there is insufficient evidence from controlled studies to confirm the clinical benefit of newborn screening for homocystinuria.
  • Uncontrolled case series suggest that newborn screening and early treatment are effective.
  • Future multicenter, long-term RCTs are necessary to establish robust evidence and conduct cost-effectiveness analyses.