Article

Insulin stimulated upregulation of OCTN2 carnitine transporters is impaired in patients with Primary carnitine deficiency

2025-09-22

Abstract excerpt

<h4>Background</h4> Primary carnitine deficiency (PCD) is an autosomal recessive disorder characterized by a lack of functional carnitine transporters OCTN2 (Organic Cation/Carnitine Transporter 2), which has been linked to several cases of sudden death in young Faroese individuals. It causes low carnitine levels and can present with hypoketotic hypoglycemia, skeletal and cardiac myopathy. Patients are treated wi...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e6042bec-487c-58e1-aac3-cecdafecb400
DOI: 10.1101/2025.09.22.677318

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Insulin stimulated upregulation of OCTN2 carnitine transporters is impaired in patients with Primary carnitine deficiencyDOI 10.1101/2025.09.22.677318Read

Carnitine transport and fatty acid oxidation.Semantic proximity Read

Carnitine transport by organic cation transporters and systemic carnitine deficiency.Semantic proximity Read

Abnormal sodium stimulation of carnitine transport in primary carnitine deficiency.Semantic proximity Read

Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiencySemantic proximity Read

Carnitine deficiency disorders in children.Semantic proximity Read

[The human OCTN2 carnitine transporter and its mutations].Semantic proximity Read

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiencySemantic proximity Read

[Carnitine - mitochondria and beyond].Semantic proximity Read

Carnitine transport: pathophysiology and metabolism of known molecular defects.Semantic proximity Read

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.Semantic proximity Read

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.Semantic proximity Read

[Primary carnitine deficiency in 17 patients: diagnosis, treatment and follow up].Semantic proximity Read