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Article

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

BMC medical genomics - 21 Oct 2025

Lin Dong-Fang, Sheng Huan, Qu Qiang, Liao Ze-Tao

Abstract excerpt

BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive disorder. Riboflavin-responsive MADD (RR-MADD) represents a treatable subtype, though its molecular mechanisms are incompletely characterized. CASE PRESENTATION: Two patients presented to department of Rheumatology, the 3rd Affiliated Hospital of Sun Yet-sen University with progressive proximal muscle weakness. A...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Iron-Sulfur Proteins

Share to Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Share to Oxidoreductases Acting on CH-NH Group Donors

Share to Positron Emission Tomography Computed Tomography

Source

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Identifiers

PMID: 41121198
DOI: 10.1186/s12920-025-02210-8
PMCID: PMC12542620

Genes

MADD
ETFDH
SLC25A13

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review.PMID 41121198Read ↗

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