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
Acute Kidney Injury and Extreme Rhabdomyolysis due to Carnitine Palmitoyltransferase II Deficiency: A Case Report.
Burma E. · 2026-03-08
unreviewed -
2
Current Status of Cellular and Gene-Based Therapies for Congenital Metabolic Disorders: A Review.
Masiarz A, Kosteczko P, Mazur M, Pelczar P, Kimber-Trojnar Ż, Leszczyńska-Gorzelak B. · 2026-09-15
open access unreviewed -
3
Recurrent Severe Viral-Induced Rhabdomyolysis Associated With Underlying Genetic Variants in a Young Adult: A Case Report.
Stone AM, Bunch CM, Gauger A, Seela G, Aboumourad N, Maust J, Picardal A, Roschyk CJ, Gonzales BA, Dollard AC… · 2026-08-17
open access unreviewed -
4
Early identification of LPIN1 variant in a child with severe myoglobinuria and a history of sibling deaths.
Ahmed MMH, Riaz S, Fatima N, Qasim SM. · 2026-08-03
unreviewed -
5
Nutritional interventions and dietary supplements in muscle diseases: a systematic review.
Talreja T, Vedantam D, Bandarupalli P, Nagendra L, Salis S, Cheng K, Liewluck T, Lupeika D, MacLean A, Gupta … · 2026-08-01
open access unreviewed -
6
Second-Tier Whole Exome Sequencing Following Abnormal Newborn Screening: Diagnostic Yield, Secondary Findings, and Carrier Burden in a Taiwanese Neonatal Cohort.
Lee CY, Niu DM, Yang CF, Chen YJ. · 2026-07-23
open access unreviewed -
7
The Role of Autophagy in the Pathogenesis of Mitochondrial Diseases.
Avdonina ED, Kutsev SI, Shestopalov AV. · 2026-07-29
open access unreviewed -
8
Updates on Rhabdomyolysis: A Clinically Oriented Narrative Review.
Richert Q, Miller N, Cameron S, Barr B, Nkosi J, Sharma A. · 2026-01-29
cited 2× open access unreviewed -
9
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
cited 1× unreviewed -
10
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
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.