ACADM K304E - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(ACADM Lys304Glu)

Short summary

This variant is causative for Medium-chain acyl-CoA dehydrogenase deficiency.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability 5

Used for Newborn Screening

See unpublished research (below).

Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary and

Allele frequency

  • None available.



Other external references

    Web search results (85 hits -- see all)
  • Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency ...
    Both mutation analysis for the common K304E allele and sequence analysis to detect rarer ... common ACADM mutation (K304E) or have two non-K304E mutations ...
  • ACADM - Wikipedia, the free encyclopedia
    The ACADM enzyme functions in mitochondria, the energy-producing ... of amino acids (also written as Lys304Glu or K304E). This mutation and other amino acid ...
  • Protein misfolding is the molecular mechanism underlying ...
    K304E and few other missense mutations identified in symptomatic patients were previously ... The cDNA of human ACADM gene (ACADM-encoding pKK223 plasmid obtained ...
  • MitoSciences: MetaPath™ Fatty Acid Oxidation 4-Plex Dipstick ...
    Untransformed fibroblasts cell lines cultured from patients with lipid metabolism disorders were analyzed by ... of the prevalent MCAD mutation K304E, 985A-G) in the ACADM gene. ...
  • ACADM - acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight ...
    The ACADM gene is also known by other names, listed below. ... The ACADM gene provides instructions for making an enzyme called medium-chain acyl ...
  • Excel
    ACADM. ACADM. ACADM. 9. Mutation. K304E/K304E. K304E/K304E. K304E/K304E ... K304E/K304E. K304E/K304E. K304E/? 10. Growth and Development: 11. diarrhea. 12 ...
  • Medium Chain Acyl Co-A Dehydrogenase (MCADD): ACADM Common ...
    Medium Chain Acyl Co-A Dehydrogenase (MCADD): ACADM Common Mutation Panel ... All K304E or Y42H mutant alleles will be detected by this assay. ...
  • OMIM 607008 - Acil CoA deidrogenasi a catena media; ACADM
    Dopo ulteriore incubazione, K304E decayed più rapidamente than did di tipo selvatico, ... K304E era più comune, accounting per 47.5% di mutante ACADM alleli. ...
  • Search by disease
    A -B -C -D -E -F -G -H -I -J -K -L -M -N -O -P -Q -R -S -T -U -V -W -X -Y - Z ... MCAD Deficiency (ACADM) 83: MCAD deficiency, mutation K304E. 84: Mcardle disease. 85: ...
  • GeneDx :: Tests :: Medium-Chain Acyl-CoA Dehydrogenase (MCAD ...
    MCAD is a disorder of fatty acid oxidation caused by mutations in the ACADM gene. ... The K304E missense mutation accounts for up to 85% of mutant ACADM alleles, ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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