Related Experiment Video
Updated: Jun 29, 2026
09:28
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Newborn screening for medium chain acyl CoA dehydrogenase deficiency
1Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London, UK. J.Leonard@ich.ucl.ac.uk
Archives of Disease in Childhood
|October 8, 2008
Summary
Medium chain acyl CoA dehydrogenase deficiency (MCADD) is a rare but preventable metabolic disorder. Early diagnosis through newborn screening and prompt dietary management, including avoiding fasting and increasing carbohydrate intake during illness, are crucial for preventing severe health issues.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Medium chain acyl CoA dehydrogenase deficiency (MCADD) is an uncommon inherited metabolic disorder affecting fatty acid oxidation.
- It represents a preventable cause of significant morbidity and mortality in affected individuals.
- Newborn screening programs for MCADD are increasingly implemented globally.
Purpose of the Study:
- To provide clinicians with essential knowledge regarding MCADD management.
- To highlight the importance of newborn screening and diagnostic confirmation.
- To outline the fundamental dietary treatment strategies for MCADD.
Main Methods:
- This review synthesizes current clinical knowledge on MCADD.
- It focuses on the interpretation of newborn screening results and diagnostic confirmation.
- It details the primary dietary management principles for patients with MCADD.
Main Results:
- Newborn screening tests for MCADD generally exhibit high predictive value.
- Independent diagnostic confirmation is essential following a positive screening result.
- Effective management relies on strict adherence to dietary recommendations.
Conclusions:
- Early detection via newborn screening is vital for timely intervention in MCADD.
- Dietary management, specifically avoiding prolonged fasting and ensuring adequate carbohydrate intake during illness, is the cornerstone of treatment.
- Optimal long-term outcomes in MCADD are directly correlated with meticulous clinical management.
Related Concept Videos
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...
02:59Animal Mitochondrial Genetics
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...