Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional and molecular studies in primary carnitine deficiency.

Human mutation - 1 Dec 2017

Frigeni Marta, Balakrishnan Bijina, Yin Xue, Calderon Fernanda R O, Mao Rong, Pasquali Marzia, Longo Nicola

Abstract excerpt

Primary carnitine deficiency is caused by a defect in the OCTN2 carnitine transporter encoded by the SLC22A5 gene. It can cause hypoketotic hypoglycemia or cardiomyopathy in children, and sudden death in children and adults. Fibroblasts from affected patients have reduced carnitine transport. We evaluated carnitine transport in fibroblasts from 358 subjects referred for possible carnitine deficiency. Carnitine...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathies
Share to Carnitine
Share to CHO Cells

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cricetulus

Share to Hyperammonemia

Share to Hypoglycemia

Share to Muscular Diseases

Share to Solute Carrier Family 22 Member 5

Source

Open in PubMed Open full text

Identifiers

PMID: 28841266
DOI: 10.1002/humu.23315
PMCID: PMC5665702

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional and molecular studies in primary carnitine deficiency.PMID 28841266Read ↗

Genotype-phenotype correlation in primary carnitine deficiency.Semantic proximity Read ↗

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

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.Semantic proximity Read ↗

Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.Semantic proximity Read ↗

Phenotype and genotype variation in primary carnitine deficiency.Semantic proximity Read ↗

From Genotype to Phenotype: Investigating SLC22A5 Variants and Their Significance in Carnitine Deficiency: A Systematic Review Study.Semantic proximity Read ↗

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.Semantic proximity Read ↗

Carnitine transport and fatty acid oxidation.Semantic proximity Read ↗

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.Semantic proximity Read ↗

A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features.Semantic proximity Read ↗

Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.