MCAD deficiency
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
Europe PMC · fetched just now · sorted by publication date
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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 4× open access unreviewed -
2
Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation
Lotnik E, Chukhrova A, Ryadninskaya N, Kadnikova V, Zakharova E, Baydakova G, Osadchii A, Anisimova I, Voroni… · 2026-06-01
open access unreviewed -
3
Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening.
Osman SA, Malki A, Al-Sulaiti H, Al-Dirbashi OY, Elrayess MA. · 2026-06-03
open access unreviewed -
4
Energetic stress in combination with impaired fatty acid oxidation induces sequestration of CoA and adaptation of CoA metabolism.
Kiyuna LA, Odendaal C, Singh M, Gerding A, Langelaar-Makkinje M, van der Zwaag M, Drachman A, Cetkovská V, Ki… · 2026-02-07
open access unreviewed -
5
Dilated Cardiomyopathy in Children: A Diverse Etiological Profile.
Setouani S, Mehdaoui A, Hazzab N, Eddaoudi S, Khabbach K, El Boussaadni Y, Oulmaati A. · 2026-05-16
open access unreviewed -
6
Beyond BRUE (Brief Resolved Unexplained Event): Recurrent Unexplained Events Revealing Congenital Hyperinsulinism in Infancy.
Khan MA, Khan F, Chohan N, Alsamawi S. · 2026-04-30
open access unreviewed -
7
Does Capillary or Intravenous Collection of Dried Blood Spots Affect the Results of Amino Acid and Acylcarnitine Profile Studied with Tandem Mass Spectrometry?
Kadıoğlu Yılmaz B, Sivrikaya A, Ünlü A. · 2026-04-04
open access unreviewed -
8
2023 MCADD patient and family education summit with providers: meeting highlights, congruences and contradictions.
Singh RH, Gurung SR, Kenneson A, Andersson HC. · 2026-04-09
unreviewed -
9
Medium-Chain Triglycerides: Scientific and Regulatory Perspectives from Germany and Japan with a US Context-A Concise Review.
Heidt C, Oertling H, Abramowicz M, Otsubo Y, Tokunaga S, Tsujino S. · 2026-03-24
open access unreviewed -
10
The History of and Advances in Newborn Screening: Where Do We Stand?
Anderson S, Velinov M. · 2026-03-23
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.