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
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
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 -
3
Primary Carnitine Deficiency: A Stitch in Time Saves Nine.
Saranya S D, Chakraborty S, Kabra M, Gupta N. · 2026-02-27
unreviewed -
4
Anesthetic Management of a Pediatric Patient With Carnitine Deficiency: A Case Report.
Downard MG, Abbott C, Mahabal S. · 2026-08-12
unreviewed -
5
Fetal Kabuki syndrome caused by a novel gene variation in KMT2D with primary carnitine deficiency: a case report.
Shen QB, Feng X, Min AP, Xu HM, Tian YX, Fan GY, Zou LH. · 2026-07-21
unreviewed -
6
From Genotype to Phenotype: Investigating SLC22A5 Variants and Their Significance in Carnitine Deficiency: A Systematic Review Study.
Ghaffari Jolfayi A, Soveizi M, Naderi N, Soheili A, Pourirahim M, Abdolkarimi L, Maleki M, Kalayinia S. · 2026-07-01
unreviewed -
7
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 -
8
Optimising Formulations for Paediatric Patients with Inherited Metabolic Disorders: The Case Study of Levocarnitine.
Tomlin S, Mühlhausen C, Krendyukov A, Das AM. · 2026-06-04
unreviewed -
9
MassARRAY-based targeted detection of SLC22A5 mutations: A feasibility study for secondary screening of primary carnitine deficiency in newborns.
Gong L, Zhao J, Li L, Liu W, Wan Z, Tang Y, Wang S, Cai B, Zhao Y, Kong Y. · 2026-04-12
unreviewed -
10
Advancements and insights into newborn screening with tandem mass spectrometry in China: a comprehensive descriptive analysis (2017-2021).
Yang X, Zhao Q, Pan R, Wu X, Xu Y, Lin Z, Huang X, Huang X, Yang R, Ma D, Zhao Z. · 2026-05-11
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.