Phenotype and genotype variation in primary carnitine deficiency

Genetics in Medicine

Volumn 3, Issue 6, 2001, Pages 387-392

  Wang, Yuhuan ^a   Korman, Stanley H ^a   Ye, Jing ^a   Gargus, J Jay ^a   Gutman, Alisa ^a   Taroni, Franco ^a   Garavaglia, Barbara ^a   Longo, Nicola ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Cardiomyopathy; Carnitine deficiency; Developmental delay; Fatty acid oxidation; OCTN2

Indexed keywords

CARNITINE; FATTY ACID; MESSENGER RNA;

ALLELE; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARNITINE DEFICIENCY; CASE REPORT; CHO CELL; CLINICAL FEATURE; CLINICAL OBSERVATION; CONTROLLED STUDY; DNA SEQUENCE; FAMILY STUDY; FATTY ACID OXIDATION; FATTY ACID TRANSPORT; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; GENOTYPE PHENOTYPE CORRELATION; HAMSTER; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; PRESCHOOL CHILD; RECURRENCE RISK; STOP CODON;

ANIMALIA; CRICETINAE; CRICETULUS GRISEUS;

EID: 0035746511     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200111000-00002     Document Type: Article

References (18)

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4. Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2
5. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter
6. Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency
7. Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency
8. Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: A novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality
9. Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency
10. Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency
11. A missense mutation in the OCTN2 gene associated with residual carnitine transport activity
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13. Clinical follow-up and molecular etiology of the original case of carnitine transporter deficiency
14. Sudden infant death following pivampicillin treatment in a patient with carnitine transporter deficiency
15. Abnormal sodium stimulation of carnitine transport in primary carnitine deficiency
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17. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
18. Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency