FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: acyl-CoA dehydrogenase, medium chain, deficiency of
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General Information
Name
acyl-CoA dehydrogenase, medium chain, deficiency of
FlyBase ID
FBhh0000879
Disease Ontology Term
Parent Disease
OMIM
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
Overview

This report describes acyl-CoA dehydrogenase, medium chain, deficiency of (ACADMD); ACADMD exhibits autosomal recessive inheritance. The human gene implicated in this disease is (as the name implies) the medium-chain-specific acyl-coenzyme A dehydrogenase, ACADM. There is a single orthologous gene in Drosophila, Mcad, for which an amorphic mutation, RNAi-targeting constructs, and an allele caused by insertional mutagenesis have been generated.

The human ACADM gene has not been introduced into flies.

Animals carrying a null genotype of Dmel\Mcad exhibit significant elevations in medium-chain acylcarnitines characteristic of ACADMD in human; this pattern was exacerbated by starvation. Ubiquitous knockdown of Dmel\Mcad effected by RNAi produces similar results. Many physical interactions of Dmel\Mcad have been described; see below and in the Mcad gene report.

Using an unbiased phosphoproteomic screen, it was determined that PINK1 mediates the phosphorylation of MCAD. In Pink1 null flies, phosphomimetic MCAD rescues the flight, climbing, thorax, and wing posture phenotypes of Pink1 mutant animals. Dmel\Pink1 is orthologous to human PINK1, which is implicated in Parkinson disease 6 (see FBhh0000009).

[updated Aug. 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: acyl-CoA dehydrogenase, medium chain, deficiency of
OMIM report

[ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD](https://omim.org/entry/201450)

Human gene(s) implicated

[ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM](https://omim.org/entry/607008)

Symptoms and phenotype

The prognosis is excellent once the diagnosis is established and frequent feedings are instituted to avoid any prolonged period of fasting. [Gene Reviews, Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency; 2018.08.22]

(FlyBase Curators, 2013-)

Inherited deficiency of medium-chain acyl-CoA dehydrogenase is characterized by intolerance to prolonged fasting, recurrent episodes of hypoglycemic coma with medium-chain dicarboxylic aciduria, impaired ketogenesis, and low plasma and tissue carnitine levels. The disorder may be severe, and even fatal, in young patients (Matsubara et al., 1986; pubmed:3462713). [from MIM:201450; 2018.08.22]

(OMIM, 2013-)
Genetics

Medium-chain acyl-CoA dehydrogenase deficiency is caused by homozygous or compound heterozygous mutation in the medium-chain acyl-CoA dehydrogenase gene (ACADM). [from MIM:201450; 2018.08.22]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information

ACADM encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. [NCBI gene, ACADM; 2018.08.22]

(FlyBase Curators, 2013-)

One of several enzymes required for initial reactions in the beta-oxidation of fatty acids. [from MIM:607008; 2018.08.22]

(OMIM, 2013-)
External links
Disease synonyms
ACADMD
ACADMD deficiency
MCAD deficiency
MCADH deficiency
medium-chain acyl-CoA dehydrogenase deficiency
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    ACADM; acyl-CoA dehydrogenase medium chain
    D. melanogaster ortholog (based on DIOPT)
    Dmel\Mcad
    (DIOPT, 2013-)
    Comments on ortholog(s)

    One to one: 1 human to 1 Drosophila

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Dmel\Mcad
      Gene Snapshot
      Contributions welcome
      Molecular function (GO)
      Cellular component (GO)
      Gene Groups / Pathways
      Comments on ortholog(s)

      High-scoring ortholog of human ACADM (1 Drosophila to 1 human); Dmel\Mcad shares 64% identity and 76% similarity with the human gene.

      Orthologs and Alignments from DRSC
      DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
      H. sapiens (Human)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (90 groups)
        Mcad
        protein-protein
        Interacting group
        Assay
        References
        Mcad - Akt
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        Mcad - Arf1
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Arf4
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Arl8
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Atpα
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - ATPsynγ
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - cathD
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - CCT3
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - CCT4
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - CCT6
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - CCT7
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - CCT8
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - CG1416
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - CG5854
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - CG5885
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - CG32638
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Chc
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Cnx99A
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - CtsL1
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Cyp12d1-p
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Droj2
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Dsor1
        anti tag coimmunoprecipitation, anti tag western blot
        (Friedman et al., 2011)
        Mcad - Egfr
        anti tag coimmunoprecipitation, peptide massfingerprinting
        (Friedman et al., 2011)
        Mcad - FASN1
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - fax
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Gale
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - GCS2β
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Gfat2
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - GluProRS
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Gp93
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Hel25E
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Idh3a
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Ipo9
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Kap-α3
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - KdelR
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Kdsr
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Kr-h2
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - ksr
        anti tag coimmunoprecipitation, peptide massfingerprinting
        (Friedman et al., 2011)
        Mcad - Ldh
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - LKRSDH
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Mec2
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - mEFTu1
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - mge
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Mpcp2
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - MRP
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - mt:CoII
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Nfs1
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Ost1
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Ost48
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - OstΔ
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - ox
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Past1
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Pdhb
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Pdk1
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        Mcad - Pi3K68D
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - porin
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Pp2A-29B
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - r
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Rab1
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Rab2
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Rab5
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Rab6
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Rab7
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Raf
        anti tag coimmunoprecipitation, peptide massfingerprinting
        (Friedman et al., 2011)
        Mcad - Rap2l
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Rdh1
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - RpS10b
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Rpt1
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - S6k
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        Mcad - ScsβA
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - ScsβG
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Sec13
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Sec61α
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - SERCA
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - SerRS
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - sima
        anti tag coimmunoprecipitation, Identification by mass spectrometry
        (Vinayagam et al., 2016)
        Mcad - spidey
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - SsRβ
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Surf4
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Tapδ
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Tecr
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - TrpRS
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Tspo
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - UQCR-6.4
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - UQCR-C2
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Vha68-2
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - Vps4
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - wal
        experimental knowledge based
        (Guruharsha et al., 2011)
        Mcad - wts
        anti tag coimmunoprecipitation, peptide massfingerprinting
        (Kwon et al., 2013)
        Mcad - ZnT63C
        experimental knowledge based
        (Guruharsha et al., 2011)
        Alleles Reported to Model Human Disease (Disease Ontology) (2 alleles)
        Mcad
        Models Based on Experimental Evidence ( 2 )
        Modifiers Based on Experimental Evidence ( 0 )
        Allele
        Disease
        Interaction
        References
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        McadGD6591
        P{GD6591}
        w1118; P{GD6591}v15053/TM3
        McadKK108356
        P{KK108356}
        P{KK108356}VIE-260B
        McadHMS00434
        P{TRiP.HMS00434}
        y1 sc* v1 sev21; P{TRiP.HMS00434}attP2
        McadHMS00435
        P{TRiP.HMS00435}
        y1 sc* v1 sev21; P{TRiP.HMS00435}attP2
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        Mcadmut
        amorphic allele - molecular evidence
        CRISPR/Cas9
        McadKO
        amorphic allele - molecular evidence
        CRISPR/Cas9
        References (5)