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Updated: Jun 28, 2026
08:51
Quantification of Coenzyme A in Cells and Tissues
Published on: September 27, 2019
Short-chain acyl-coenzyme A dehydrogenase deficiency
Reena Jethva1, Michael J Bennett, Jerry Vockley
1Division of Human and Molecular Genetics, Children's Hospital of Philadelphia, Abramson Research Center, Room 1002, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA.
Molecular Genetics and Metabolism
|November 4, 2008
Summary
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a fatty acid oxidation disorder. Most diagnosed newborns are asymptomatic, complicating SCADD evaluation and treatment due to frequent genetic variants.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a mitochondrial fatty acid oxidation disorder.
- It causes accumulation of specific metabolites like butyrylcarnitine and ethylmalonic acid.
- Historically associated with severe phenotypes, SCADD is now frequently identified in asymptomatic newborns via screening.
Purpose of the Study:
- To clarify the diagnostic challenges and clinical significance of SCADD.
- To investigate the role of genetic variants in SCADD presentation.
- To address the confusion in evaluating and treating SCADD patients.
Main Methods:
- Newborn screening using tandem mass spectrometry.
- Molecular analysis of affected individuals.
- Analysis of genetic mutations and polymorphic variants.
Main Results:
- Most SCADD patients identified through newborn screening are asymptomatic.
- A high frequency of private inactivating point mutations and one common mutation in Ashkenazi Jewish ancestry were identified.
- Two polymorphic variants impair enzyme folding and stability, leading to increased ethylmalonic acid excretion in some individuals, though not clinically significant.
Conclusions:
- The high prevalence of asymptomatic SCADD cases and frequent genetic variants complicates clinical evaluation and treatment.
- Long-term consequences and the necessity of chronic therapy for SCADD require further investigation.
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