Primary carnitine deficiency
Enzyme or protein defect
OCTN2 carnitine transporter
Accumulates or becomes deficient
Low tissue carnitine
Key features
Cardiomyopathy, hypotonia, hypoketotic hypoglycaemia
Management
Oral carnitine
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
Environmental risk factors for false-positive results in newborn screening for primary carnitine deficiency: a multicenter large-scale retrospective cohort study.
Shang Z, Liu J, Leng Q, Pan K, Tang L, Hu Y, Xu W, Liu S, Xie P. · 2026-08-27
unreviewed -
2
Recent advances in the bioanalysis of acylcarnitines: Methodologies, challenges, and clinical perspectives.
Zheng J, Chen W, Qin F, Zhang P, Xu F. · 2026-06-24
open access unreviewed -
3
Neonatal genetic sequencing as a first-tier option: a real-world clinical implementation study in Northern China.
Mu J, Sun M, Li Y, Li P, Zou H. · 2026-07-09
open access unreviewed -
4
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 -
5
Treatment of Fatty Acid Oxidation Disorders Today: Emerging Personalized Treatment Strategies.
Spiekerkoetter U, Vockley J. · 2026-09-01
open access unreviewed -
6
Progress and Prospects of Newborn Screening in China.
Hao X, Huang X, Yang R, Yang X, Huang X, Zhao Z. · 2026-09-02
open access unreviewed -
7
Clinical and genetic spectrum of dual rare genetic diseases revealed by whole-exome sequencing in 14 pediatric patients.
Zhao M, Li F, Lu X, Zheng H, Du X. · 2026-09-21
open access unreviewed -
8
Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye.
Arslan S, Ekinci Uğan F, Yaralı O, Kahveci H. · 2026-09-04
open access unreviewed -
9
Sudden Cardiac Arrest and Takotsubo-Like Cardiomyopathy as the Initial Presentation of Primary Carnitine Deficiency.
Talasani N, Przybylski R, Delaney MA, Berthold A, Biderman M, Hauser N, Cohen M, Jordan C. · 2026-07-04
unreviewed -
10
Mass spectrometry in laboratory medicine: advances in automation, multiplex biomarker quantification, and diagnostics.
Khamidova F, Tatykayeva U, Reymnazarova G, Davronova S, Tilyabov I, Khasanov S. · 2026-06-01
unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.