title: Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants.
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.
authors.affiliation: Willink Biochemical Genetics Unit, Royal Manchester Childrens Hospital, UK.
authors.forename: S
authors.initials: S
authors.lastname: Vijay
authors.forename: A
authors.initials: A
authors.lastname: Patterson
authors.forename: S
authors.initials: S
authors.lastname: Olpin
authors.forename: M J
authors.initials: MJ
authors.lastname: Henderson
authors.forename: S
authors.initials: S
authors.lastname: Clark
authors.forename: C
authors.initials: C
authors.lastname: Day
authors.forename: G
authors.initials: G
authors.lastname: Savill
authors.forename: J H
authors.initials: JH
authors.lastname: Walter
mesh_terms: D000328:Adult; D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood / Q000378:metabolism*; D003241:Consanguinity; D005260:Female; D005312:Fetal Blood / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013058:Mass Spectrometry; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*; D009035:Mothers; D027701:Organic Cation Transport Proteins / Q000235:genetics* / Q000502:physiology; D010100:Oxygen / Q000378:metabolism; D000074058:Solute Carrier Family 22 Member 5
chemical_list: D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; C116917:acylcarnitine; D002331:Carnitine; D010100:Oxygen