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

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

American journal of medical genetics - 15 Aug 2002

Lamhonwah Anne-Marie, Olpin Simon E, Pollitt Rodney J, Vianey-Saban Christine, Divry Priscille, Guffon Nathalie, Besley Guy T N, Onizuka Russell, De Meirleir Linda J, Cvitanovic-Sojat Ljerka, Baric Ivo, Dionisi-Vici Carlo, Fumic Ksenija, Maradin Miljenka, Tein Ingrid

Abstract excerpt

Primary systemic carnitine deficiency or carnitine uptake defect (OMIM 212140) is a potentially lethal, autosomal recessive disorder characterized by progressive infantile-onset cardiomyopathy, weakness, and recurrent hypoglycemic hypoketotic encephalopathy, which is highly responsive to L-carnitine therapy. Molecular analysis of the SLC22A5 (OCTN2) gene, encoding the high-affinity carnitine transporter, was done...

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carrier Proteins

Share to Membrane Proteins

Share to Organic Cation Transport Proteins

Share to Solute Carrier Family 22 Member 5

Share to Structure-Activity Relationship

Source

Identifiers

PMID: 12210323
DOI: 10.1002/ajmg.10585

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.PMID 12210323Read ↗

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

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

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

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.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 ↗

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

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

Functional and molecular studies in primary carnitine deficiency.Semantic proximity Read ↗

Identification of two novel mutations in OCTN2 of three patients with systemic 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 ↗

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.Semantic proximity Read ↗

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and managementSemantic proximity Read ↗

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