Carnitine transporter defect: Diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants

Journal of Inherited Metabolic Disease

Volumn 29, Issue 5, 2006, Pages 627-630

  Vijay, S ^a   Patterson, A ^b   Olpin, S ^c   Henderson, M J ^b   Clark, S ^c   Day, C ^d   Savill, G ^e   Walter, John H ^a  

^a ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^d BRADFORD ROYAL INFIRMARY   (United Kingdom)

^e AIREDALE GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARNITINE; ORGANIC CATION CARNITINE TRANSPORTER 2; ORGANIC CATION TRANSPORTER; UNCLASSIFIED DRUG;

ADULT; AMINO ACID BLOOD LEVEL; AMINO ACID TRANSPORT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD ANALYSIS; BLOOD SAMPLING; CARNITINE TRANSPORTER DEFECT; CASE REPORT; CELL ASSAY; CLINICAL FEATURE; DRUG WITHDRAWAL; ECHOCARDIOGRAPHY; FATTY ACID OXIDATION; FEMALE; HUMAN; INFANT; INFANT DISEASE; LIPID ANALYSIS; MALE; MATERNAL BLOOD; SKIN FIBROBLAST; UMBILICAL CORD BLOOD;

ADULT; CARNITINE; CONSANGUINITY; FEMALE; FETAL BLOOD; HUMANS; INFANT, NEWBORN; MALE; MASS SPECTROMETRY; METABOLISM, INBORN ERRORS; MOTHERS; ORGANIC CATION TRANSPORT PROTEINS; OXYGEN;

EID: 33748710253     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0376-y     Document Type: Article

References (10)

1. Bremer J (1990) The role of carnitine in intracellular metabolism. J Clin Chem Clin Biochem 28(5): 297-301.
2. Cederbaum SD, Koo-McCoy S, Tein I et al (2002) Carnitine membrane transporter deficiency: A long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. Mol Genet Metab 77(3): 195-201.
3. Lamhonwah AM, Olpin SE, Pollitt RJ et al (2002) Novel OCTN2 mutations: no genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy. Am J Med Genet 111(3): 271-284.
4. 3 H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts. J Inherit Metab Dis 13(1): 58-68.
5. Oey NA, van Vlies N, Wijburg FA, Wanders RJ, Attie-Bitach T, Vaz FM (2005) l-Carnitine is synthesized in the human fetal-placental unit: potential roles in placental and fetal metabolism. Placenta 27(8): 841-846.
6. Spiekerkoetter U, Huener 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(6): 613-615.
7. 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(5): 709-716.
8. Tamai I, Ohashi R, Nezu J, et al (1998) Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. J Biol Chem 273(32): 20378-20382.
9. Tein I, De Vivo DC, Bierman F, et al (1990) Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr Res 28(3): 247-255.
10. Winter SC, Linn LS, Helton E (1995) Plasma carnitine concentrations in pregnancy, cord blood, and neonates and children. Clin Chim Acta 243(1): 87-93.