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ACADM AR unreviewed

MCAD deficiency

Beta-Oxidation of Fatty Acids Medium-chain acyl-CoA dehydrogenase

Enzyme or protein defect

Medium-chain acyl-CoA dehydrogenase

Accumulates or becomes deficient

C6-C10 dicarboxylic acids; low ketones

Key features

Hypoketotic hypoglycaemia on fasting, vomiting, coma, SIDS-like death

Management

Avoid fasting; carnitine; newborn screening

Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.

Recent literature

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Europe PMC · fetched just now · sorted by publication date

  1. 1
    The ketogenic diet is not for everyone: contraindications, side effects, and drug interactions.

    Dyńka D, Rodzeń Ł, Rodzeń M, Łojko D, Karakuła-Juchnowicz H, Ede G, Grzywacz Ż, Antosik K, Sethi S, Unwin D. · 2026-01-04

    cited 10× open access unreviewed
  2. 2
    Inborn Errors of Metabolism: Pathophysiological Insights, Diagnostic Advances, and Evolving Treatment Paradigms.

    Sadaria R. · 2026-06-19

    open access unreviewed
  3. 3
    Experiences and Information Needs of Families of Children With Organic Acid or Fatty Acid Metabolism Disorders in Japan.

    Kaneko M, Harada K, Takeuchi C, Kawame H. · 2026-10-01

    unreviewed
  4. 4
    A newborn with glycogen storage disease type Ib presenting with hypoglycemia and evidence of mitochondrial dysfunction

    Fuchs M, Keehan L, Ky T, Enns G, Cowan T. · 2026-09-24

    open access unreviewed
  5. 5
    Treatment of Fatty Acid Oxidation Disorders Today: Emerging Personalized Treatment Strategies.

    Spiekerkoetter U, Vockley J. · 2026-09-01

    open access unreviewed
  6. 6
    Relationship between intra-thoracic and -amniotic pressures and the impact of amnioreduction on thoraco-amniotic shunting efficacy: Insights from a case series.

    Shimaoka R, Takahashi Y, Ono H, Inuzuka S, Matsui M, Asai K, Iwagaki S, Isobe M. · 2026-08-01

    open access unreviewed
  7. 7
    Medium Chain Acyl-CoA Dehydrogenase Deficiency; an Unexpected Cause of Neonatal Ketoacidosis.

    Kamarus Jaman N, Bernhardt I, Ward S, Hassall F, Nurse J, Lemonde H, Dalton RN, Champion M. · 2026-08-10

    open access unreviewed
  8. 8
    Application of CLIR-Based Post-Analytical Tools to Dutch NBS Data Demonstrates Its Potential Impact on the Performance of CPT1, GA-1, IVA and MSUD Screening in a Disorder-Specific Way.

    Meijer NWF, Maase RE, Hall PL, Visser WF, Koop K, Bosch AM, Heiner-Fokkema MR, de Sain-van der Velden MGM. · 2026-08-24

    open access unreviewed
  9. 9
    The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening.

    García-Villoria J, López-Galera RM, Delgado-Pecellín C, Rausell Félix D, Colón C, Rocha H, Pérez B, Ribes A, … · 2026-08-13

    open access unreviewed
  10. 10
    Pediatric premature atrial contractions: Clinical characteristics, diagnosis, and management-A literature review.

    Yu R, Qi J, Wang X. · 2026-06-08

    open access unreviewed

External claims. These come from an index outside this database and are not checked against it. Treat them as leads.