Enzyme or protein defect
Carnitine palmitoyltransferase II
Accumulates or becomes deficient
Long-chain acylcarnitines
Key features
Adult form: rhabdomyolysis after prolonged exercise or fasting
Management
Avoid triggers; MCT diet
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
Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using Real-World-Evidence from Canada.
Sultan R, Ambrose A, Bahl S, Hung C, Horvath G, Salvarinova R, Chan A, Jain-Ghai S, Vockley J, Mercimek-Andre… · 2026-03-05
unreviewed -
2
Comparison of Four Screening Markers [(C16 + C18:1)/C2, C14/C3, C12/C0, and C12/C2] for Carnitine Palmitoyltransferase II Deficiency in the Nationwide Newborn Screening Program in Japan.
Tajima G, Ishige N, Hanai J, Konomura K. · 2026-05-15
open access unreviewed -
3
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 -
4
Pediatric HyperCKemia: a 13-year retrospective study and predictors of neuromuscular disease and metabolic myopathy.
Aires Martins I, Baptista de Lima J, Coelho MP, Bandeira A, Martins E, Correia J. · 2026-04-10
open access unreviewed -
5
Metabolic Myopathies and HyperCKemia in Adulthood: A Clinical Approach to Diagnosis and Management
Shakerdi L. · 2026-03-01
open access unreviewed -
6
Severe Rhabdomyolysis With Acute Kidney Injury Triggered by Influenza A and Strenuous Exercise in a Healthy Adolescent: A Dual-Hit Mechanism.
Benaini I, Bouayed MZ, Oujidi Y, Ismaili MF, Laaribi I, Zaid I, Bkiyar H. · 2026-02-21
open access unreviewed -
7
Training medical students' diagnostic reasoning skills using multivariate analysis.
Schaberle FA, Pestana J, Santiago LM, Pais AACC. · 2026-01-30
open access unreviewed -
8
Expanding carrier screening: beyond the genes, to include underrepresented ancestries.
Bylstra Y, Jian PC, Lin S, Goh J, Choi C, Teo JX, Lim S, Hodgson J, Menezes M, Weng R, Amor DJ, Lim WK, Jamua… · 2025-12-26
cited 1× open access unreviewed -
9
Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes.
Upadia J, Noh G, Crivelly K, Aziz E, Cunningham A, Andersson HC. · 2025-12-09
cited 1× open access unreviewed -
10
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M, Andreescu N, Caba L, Popoiu TA, Mozos I, Gug C. · 2025-11-11
cited 2× open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.