Enzyme or protein defect
Carnitine palmitoyltransferase I
Accumulates or becomes deficient
Long-chain acyl-CoA in cytosol
Key features
Hypoketotic hypoglycaemia, hepatomegaly; normal or high carnitine
Management
Avoid fasting; MCT-based 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
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 -
2
The Role of Autophagy in the Pathogenesis of Mitochondrial Diseases.
Avdonina ED, Kutsev SI, Shestopalov AV. · 2026-07-29
open access unreviewed -
3
Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes.
Richbourg H, Rangel Miller V, Khazaie Japalaghi O, AlSayed M, Baker PR, Daugherty S, Ekstein T, Grünert SC, K… · 2026-07-07
open access unreviewed -
4
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 2× open access unreviewed -
5
Case Report: Lethal neonatal form of CPT II deficiency in consecutive pregnancies: fetal-neonatal characteristics, biochemical and molecular review.
Tan YY, Tewani KG, Anand AJ, Kong CX, Rajadurai VS, Chandran S. · 2025-11-18
open access unreviewed -
6
A different perspective into clinical symptoms in CPT I deficiency.
Balci MC, Karaca M, Selamioglu A, Korbeyli HK, Durmus A, Ak B, Kozanoglu T, Gokcay GF. · 2023-11-30
cited 3× open access unreviewed -
7
The role of genetic defects in carnitine-associated hepatic encephalopathy: a review of literature.
Kheirandish A, Shah Hosseini R, Yaghoobpoor S, Bahrami A, Aghajani A, Fathi M, Alipour M, Zarebidoki A, Moham… · 2024-01-01
open access unreviewed -
8
Secondary Carnitine Deficiency in Neonates and Infants Requiring Surgery for Intestinal Obstructions-An Underestimated and Undermanaged Problem.
Huang SY, Chou CM, Chen HC. · 2024-01-24
open access unreviewed -
9
Myopathic Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Rare Cause of Acute Kidney Injury and Cardiomyopathy.
Castillo E, Medina D, Schoenmann N. · 2023-10-06
cited 4× open access unreviewed -
10
Genetics of enzymatic dysfunctions in metabolic disorders and cancer.
Mahé M, Rios-Fuller TJ, Karolin A, Schneider RJ. · 2023-08-02
cited 16× open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.