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Article

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

Human genetics - 1 Jan 2000

Vaz F M, Scholte H R, Ruiter J, Hussaarts-Odijk L M, Pereira R R, Schweitzer S, de Klerk J B, Waterham H R, Wanders R J

Abstract excerpt

Systemic carnitine deficiency is a potentially lethal, autosomal recessive disorder characterized by cardiomyopathy, myopathy, recurrent episodes of hypoketotic hypoglycemia, hyperammonemia, and failure to thrive. This form of carnitine deficiency is caused by a defect in the active cellular upta...

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Identifiers

PMID: 10480371
DOI: 10.1007/s004399900105

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10480371-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.PMID 10480371Read ↗

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

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

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Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.Semantic proximity Read ↗

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

Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency.Semantic proximity Read ↗

Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.Semantic proximity Read ↗

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