Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy

Journal of Inherited Metabolic Disease

Volumn 27, Issue 6, 2004, Pages 778-780

  Makhseed, N ^a   Vallance, H D ^a   Potter, M ^a   Waters, P J ^a   Wong, L T K ^a   Lillquist, Y ^a   Pasquali, M ^b   Amat di San Filippo, C ^b   Longo, N ^b  

^a CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

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

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; CARRIER PROTEIN; ORGANIC CATION TRANSPORTER; PROTEIN SLC22A5; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BINDING AFFINITY; CARNITINE DEFICIENCY; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC TEST; DISEASE ASSOCIATION; ELECTROMYOGRAPHY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; HUMAN; HYPOGLYCEMIA; LABORATORY TEST; MUSCLE BIOPSY; NERVE CONDUCTION; OUTCOMES RESEARCH; PATHOGENESIS; PERIPHERAL NEUROPATHY; PRESCHOOL CHILD; PROTEIN BLOOD LEVEL;

CARNITINE; CHILD, PRESCHOOL; ELECTROMYOGRAPHY; FEMALE; HUMANS; HYPOGLYCEMIA; MUTATION; ORGANIC CATION TRANSPORT PROTEINS; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE;

EID: 7244227863     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000045837.23328.f4     Document Type: Article

References (4)

1. Spiekerkoetter U, Huenger G, Baykal T, et al (2003) Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2. J Inherit Metab Dis 26: 613-615.
2. Stanley CA, Deleeuw S, Coates PM, et al (1991) Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol 30: 709-716.
3. Wang Y, Taroni F, Garavaglia B, Longo N (2000) Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation. Hum Mutat 16 401-407.
4. Wang Y, Korman SH, Ye J (2001) Phenotype and genotype variation in primary carnitine deficiency. Genet Med 3: 387-392.