Multiple acyl-CoA dehydrogenase deficiency: genes and variants

Genes linked to Multiple acyl-CoA dehydrogenase deficiency

• ETFDH: Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial

  It transfers electrons from electron-transfer flavoprotein to ubiquinone in the inner mitochondrial membrane, linking several dehydrogenases to the respiratory chain. Biallelic deficiency causes multiple acyl-CoA dehydrogenase deficiency, often with a riboflavin-responsive late-onset myopathic form.

  90 disease-causing and 204 uncertain variants in ETFDH are linked to Multiple acyl-CoA dehydrogenase deficiency.

• ETFB: Electron transfer flavoprotein subunit beta

  It accepts electrons from multiple mitochondrial flavoprotein dehydrogenases and transfers them toward the respiratory chain through ETF dehydrogenase. Biallelic loss-of-function variants cause multiple acyl-CoA dehydrogenase deficiency, disrupting fatty-acid and amino-acid oxidation.

  6 disease-causing and 68 uncertain variants in ETFB are linked to Multiple acyl-CoA dehydrogenase deficiency.

Known disease-causing variants in Multiple acyl-CoA dehydrogenase deficiency

Showing 60 of 96.

Uncertain variants in Multiple acyl-CoA dehydrogenase deficiency that look disease-causing

Which prediction tools work for Multiple acyl-CoA dehydrogenase deficiency

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• SIFT: 96 out of 100

Diseases related to Multiple acyl-CoA dehydrogenase deficiency

• Glutaric acidemia IIc, also linked to ETFDH

Frequently asked questions

Which genes are linked to Multiple acyl-CoA dehydrogenase deficiency?

In CATVariant, Multiple acyl-CoA dehydrogenase deficiency is linked to 2 analyzed proteins: ETFDH (Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial) and ETFB (Electron transfer flavoprotein subunit beta).

How many genetic variants are linked to Multiple acyl-CoA dehydrogenase deficiency?

418 variants: 96 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 272 are of uncertain significance or have conflicting reports.

Which uncertain variants in Multiple acyl-CoA dehydrogenase deficiency look disease-causing?

10 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example ETFDH G381D, ETFDH P227S, ETFDH Q269H, ETFDH P137L and ETFDH S82F. These are leads for expert review, not diagnoses.

Which variant effect predictor works best for Multiple acyl-CoA dehydrogenase deficiency?

Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.96, based on 85 disease-causing and 8 harmless variants).

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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