Carnitine-acylcarnitine translocase deficiency: Case report and review of the literature

Acta Paediatrica, International Journal of Paediatrics

Volumn 92, Issue 4, 2003, Pages 501-504

  Rubio Gozalbo, M E ^a,d   Vos, P ^a   Forget, P Ph ^a   Van Der Meer, S B ^b   Wanders, R J A ^c   Waterham, H R ^c   Bakker, J A ^d  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Sittard Geleen Heerlen   (Netherlands)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d Stichting Klinische Genetica   (Netherlands)

Author keywords

Carnitine acylcarnitine translocase deficiency; Mitochondrial fatty acid oxidation

Indexed keywords

ACYLCARNITINE CARNITINE TRANSLOCASE; ANTICONVULSIVE AGENT; CARBOHYDRATE; CARRIER PROTEIN; CREATINE KINASE; FAT; GLUCOSE; LONG CHAIN FATTY ACID; PROTEIN; UNCLASSIFIED DRUG; CARNITINE ACYLTRANSFERASE;

APNEA; ARTIFICIAL VENTILATION; BIOCHEMISTRY; BRAIN DISEASE; CALORIC INTAKE; CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY; CASE REPORT; CLINICAL FEATURE; CONVULSION; DEATH; DIET THERAPY; FEMALE; GENE MUTATION; HEART ARRHYTHMIA; HEPATOMEGALY; HUMAN; HYPERAMMONEMIA; INBORN ERROR OF METABOLISM; LABORATORY TEST; LACTIC ACIDEMIA; LIPOLYSIS; METABOLIC ACIDOSIS; MITOCHONDRIAL RESPIRATION; MORTALITY; NEWBORN; NEWBORN PERIOD; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REVIEW; SEIZURE; TUBE FEEDING; FATALITY; GENETICS;

CARNITINE ACYLTRANSFERASES; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; METABOLISM, INBORN ERRORS;

EID: 0042377348     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2003.tb00586.x     Document Type: Review

References (20)

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