Related Experiment Video
Updated: Aug 4, 2026
09:28
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 26, 2010
Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution
1Division of Molecular Paediatrics, CI-02-33, Centre Hospitalier Universitaire Vaudois, 1011, Lausanne, Switzerland. asuperti@chuv.unil.ch
European Journal of Pediatrics
|October 28, 2003
Summary
Tandem mass spectrometry offers a powerful new method for diagnosing inborn metabolic errors. This technology enables the simultaneous detection of multiple disorders, including glutaric aciduria type 1, in newborns.
Area of Science:
- Biochemistry
- Medical Diagnostics
- Metabolomics
Background:
- Inborn metabolic errors represent a significant diagnostic challenge.
- Tandem mass spectrometry (MS/MS) has emerged as a transformative technology in metabolic diagnostics.
- MS/MS allows for the simultaneous analysis of multiple metabolites, offering a comprehensive diagnostic approach.
Purpose of the Study:
- To evaluate the potential application of tandem mass spectrometry (MS/MS) for newborn screening.
- To discuss the specific considerations for incorporating glutaric aciduria type 1 into newborn screening protocols.
Main Methods:
- Review of existing literature on tandem mass spectrometry in metabolic diagnostics.
- Analysis of the diagnostic capabilities of MS/MS for inborn metabolic errors.
- Focus on the specific case of glutaric aciduria type 1 (MIM 231670).
Main Results:
- Tandem mass spectrometry (MS/MS) significantly enhances the diagnostic capacity for inborn metabolic errors.
- The technology permits the recognition of entire classes of disorders in a single analytical step.
- Glutaric aciduria type 1 is a disorder amenable to detection via MS/MS.
Conclusions:
- Tandem mass spectrometry (MS/MS) holds considerable promise for expanding newborn screening programs.
- Careful evaluation of each specific disorder, such as glutaric aciduria type 1, is crucial before widespread implementation.
- Further research and validation are necessary to optimize MS/MS for comprehensive newborn screening.
Related Concept Videos
01:27Glucose Transporters
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
01:20Inborn 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...
01:22Diabetes Mellitus: Type 2 and Gestational
Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
01:15Hypoglycemia and Glucagon
Without prolonged fasting, healthy individuals maintain blood glucose levels above 3.5 mM due to a well-adapted neuroendocrine counterregulatory system that effectively prevents acute hypoglycemia, a potentially life-threatening condition. The primary clinical scenarios for hypoglycemia encompass diabetes treatment, inappropriate production of endogenous insulin or insulin-like substances by tumors, and the use of glucose-lowering agents in non-diabetic individuals. Notably, hypoglycemia in the...
01:25Type II Diabetes Mellitus III: Clinical Manifestations and Diagnosis
Type 2 diabetes mellitus develops gradually and is often asymptomatic in early stages.Clinical ManifestationsWhen symptoms appear, they include fatigue, blurred vision, pruritus, delayed wound healing, and recurrent infections, particularly candidal infections. Peripheral neuropathy may present as numbness or tingling in the extremities. Classic hyperglycemia symptoms—polyuria, polydipsia, and polyphagia—are less common. Most patients are overweight and frequently have associated hypertension...