Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.

doi:10.1159/000448321

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Article

Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.

Annals of nutrition & metabolism - 1 Jan 2016

Longo Nicola

Abstract excerpt

Carnitine is needed for transfer of long-chain fatty acids across the inner mitochondrial membrane for subsequent β-oxidation. Carnitine can be synthesized by the body and is also obtained in the diet through consumption of meat and dairy products. Defects in carnitine transport such as those caused by defective activity of the OCTN2 transporter encoded by the SLC22A5 gene result in primary carnitine deficiency,...

Topics

Cardiomyopathies
Carnitine
Deficiency Diseases
Denmark
Dietary Supplements
Genetic Testing
Humans
Hyperammonemia
Incidence
Infant, Newborn
Metabolism, Inborn Errors
Mixed Function Oxygenases
Muscular Diseases
Mutation
Neonatal Screening
Prognosis
Solute Carrier Family 22 Member 5

Source

Open in PubMed

Identifiers

PMID: 27931018
DOI: 10.1159/000448321

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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