Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency
Lancet (London, England)
|October 9, 2001
Summary
Newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is recommended in the UK. Acylcarnitine analysis in blood spots shows high specificity, supporting early detection of this serious disorder.
Area of Science:
- Biochemistry
- Genetics
- Neonatal Medicine
Background:
- Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is not standard in the UK.
- Uncertainty regarding the disorder's natural history and screening test specificity are primary barriers.
- This study addresses these concerns through retrospective analysis.
Discussion:
- Retrospective analysis of neonatal blood spots for acylcarnitine concentrations.
- Review of patients with elevated octanoylcarnitine levels at 7-9 years of age.
- Evaluation of the disorder's morbidity and mortality rates.
Key Insights:
- High morbidity and mortality associated with MCAD deficiency underscore the need for early detection.
- Acylcarnitine analysis demonstrates high specificity for identifying affected individuals.
- Data supports the feasibility and benefits of implementing neonatal screening.
Outlook:
- Introduction of neonatal screening for MCAD deficiency in the UK is supported.
- Further research may refine screening protocols and long-term management strategies.
- Improved early diagnosis can significantly reduce the impact of MCAD deficiency.
Related Concept Videos
01:28Overview of Fatty Acid Metabolism
Lipids also are sources of energy that power cellular processes. Like carbohydrates, lipids are composed of carbon, hydrogen, and oxygen, but these atoms are arranged differently. Most lipids are nonpolar and hydrophobic. Major types include fats and oils, waxes, phospholipids, and steroids.
Fatty acids are catabolized in a process called beta-oxidation, which takes place in the matrix of the mitochondria and converts their fatty acid chains into two-carbon units of acetyl groups. The acetyl...
Fatty acids are catabolized in a process called beta-oxidation, which takes place in the matrix of the mitochondria and converts their fatty acid chains into two-carbon units of acetyl groups. The acetyl...
01:23Cystic Fibrosis: Pathogenesis
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
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...
01:24Pharmacokinetics 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...
01:18Amino Acid Catabolism
Microorganisms rely on proteins as an essential carbon and energy source, particularly in environments with limited polysaccharides or lipids. However, proteins are too large to cross the plasma membrane unaided, necessitating enzymatic degradation. Microbes secrete extracellular proteases and peptidases that hydrolyze proteins into peptides, which can then be transported across the membrane. Once inside the cell, intracellular proteases degrade these peptides into free amino acids, which...
01:25Lipid Catabolism
Triglycerides serve as crucial long-term energy storage molecules in microorganisms, providing a dense source of metabolic energy. Their breakdown is mediated by lipases, which hydrolyze triglycerides into glycerol and free fatty acids. Each of these components follows distinct metabolic pathways, ultimately contributing to ATP synthesis and cellular energy homeostasis.Glycerol MetabolismGlycerol, released from triglyceride hydrolysis, is phosphorylated by glycerol kinase to form...