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October 23, 2025BMC Medical GenomicsOpen Access

PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review

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Authors

DLDong-Fang LinHSHuan ShengQQQiang Qu

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Overview

Case series reveals compound heterozygous mutations in citrullinemia type II, suggesting exome sequencing enhances MADD diagnosis.

Key Points

  • Both patients achieved biochemical remission with riboflavin supplementation, leading to a positive prognosis.
  • Important findings include a compound heterozygous mutation linked to adult-onset citrullinemia type II in one patient.
  • Assessment using exome sequencing and 18F-FDG PET/CT provides comprehensive insights for evaluating MADD.
  • Highlights the role of structural domains in predicting responses to riboflavin therapy in MADD patients.

Cite This Study

Lin et al. (2025) studied this question.

synapsesocial.com/papers/68fa32a40df2e6cd2f7420e8https://doi.org/10.1186/s12920-025-02210-8
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