Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency

Journal of Inherited Metabolic Disease

Volumn 22, Issue 3, 1999, Pages 267-270

  Costa, C ^a   Costa, J M ^b   Nuoffer, J M ^c   Slama, A ^a   Boutron, A ^a   Saudubray, J M ^c   Legrand, A ^a   Brivet, M ^a  

^a BICÊTRE HOSPITAL   (France)

^b AMERICAN HOSPITAL OF PARIS   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARNITINE; CARRIER PROTEIN; COMPLEMENTARY DNA; FATTY ACID;

ACTIVE TRANSPORT; CARDIOMYOPATHY; CASE REPORT; CHILD; CONFERENCE PAPER; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; ENZYME ACTIVITY; FAMILY HISTORY; FATTY ACID OXIDATION; FEMALE; GENE MUTATION; HEART BEAT; HUMAN; HUMAN CELL; HYPERAMMONEMIA; MALE; MITOCHONDRION; NEWBORN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; STOP CODON;

CARNITINE ACYLTRANSFERASES; CARRIER PROTEINS; CYTOSINE; FEMALE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MEMBRANE TRANSPORT PROTEINS; THYMINE;

EID: 0033040747     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005590223680     Document Type: Conference Paper

References (4)

1. Huizing M, Iacobazzi V, Ijlst L, et al (1997) Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. Am J Hum Genet 61:1239-1245.
2. Huizing M, Wendel U, Ruitenbeek W, et al (1998) Carnitine acylcarnitine carrier deficiency: identification of the molecular defect in a patient. J Inher Metab Dis 21: 262-267.
3. Indiveri C, Iacobazzi V, Giangregorio N, et al (1997) The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteins. Biochem J 321: 713-719.
4. Viggiano L, Iacobazzi V, Marzella R, Cassano C, Rocchi M, Palmieri F (1997) Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization. Cytogenet Cell Genet 79(1-2): 62-63.