Carnitine transporter defect: Diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants
- 23 July 2006
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 29 (5), 627-630
- https://doi.org/10.1007/s10545-006-0376-y
Abstract
Carnitine transporter defect (CTD) is an autosomal recessive disorder characterized by episodes of non-ketotic hypoglycaemia, hyperammonaemia and liver disease, or by the development of cardiomyopathy, both of which occur in infancy and childhood. Blood carnitine concentrations are extremely low. The diagnosis can be confirmed by finding abnormal fat oxidation and carnitine uptake in skin fibroblasts. The condition has not previously been thought to present later in life or to be benign. We report the identification of four women discovered to have CTD as a consequence of finding low carnitine concentrations in the cord blood or newborn samples from their infants. All four mothers had been asymptomatic and none had a cardiomyopathy.Keywords
This publication has 10 references indexed in Scilit:
- l-Carnitine is Synthesized in the Human Fetal–Placental Unit: Potential Roles in Placental and Fetal MetabolismPlacenta, 2006
- Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2Journal of Inherited Metabolic Disease, 2003
- Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiencyMolecular Genetics and Metabolism, 2002
- Novel OCTN2 mutations: No genotype–phenotype correlations: Early carnitine therapy prevents cardiomyopathyAmerican Journal of Medical Genetics, 2002
- Molecular and Functional Identification of Sodium Ion-dependent, High Affinity Human Carnitine Transporter OCTN2Journal of Biological Chemistry, 1998
- Plasma carnitine concentrations in pregnancy, cord blood, and neonates and childrenClinica Chimica Acta; International Journal of Clinical Chemistry, 1995
- Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptakeAnnals of Neurology, 1991
- Impaired Skin Fibroblast Carnitine Uptake in Primary Systemic Carnitine Deficiency Manifested by Childhood Carnitine-Responsive CardiomyopathyPediatric Research, 1990
- The role of carnitine in intracellular metabolism.1990
- A comparison of [9,10‐3H]palmitic and [9,10‐3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblastsJournal of Inherited Metabolic Disease, 1989