Carnitine-acylcarnitine translocase deficiency is a treatable disease

Journal of Inherited Metabolic Disease

Volumn 22, Issue 3, 1999, Pages 271-275

  Al Aqeel, A I ^a   Rashed, M S ^b   Wanders, R J A ^c  

^a The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARNITINE; CARNITINE ACYLTRANSFERASE; LONG CHAIN FATTY ACID;

APNEA; CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; ENZYME DEFICIENCY; FATTY ACID METABOLISM; FEMALE; GAS CHROMATOGRAPHY; HUMAN; HYPERAMMONEMIA; MITOCHONDRIAL MEMBRANE; NEWBORN; NYSTAGMUS; PERITONEAL DIALYSIS; TANDEM MASS SPECTROMETRY;

ACETYLCARNITINE; CARNITINE; CARNITINE ACYLTRANSFERASES; FEMALE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; PALMITOYLCARNITINE; TREATMENT OUTCOME;

EID: 0033067117     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005546408659     Document Type: Conference Paper

References (6)

1. Brivet M, Slama, A, Millington DS, et al (1996) Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. J Inher Metab Dis 19: 181-184.
2. Chalmers RA, Stanley CA, English N, et al (1997) Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. Postmortem diagnosis, prenatal exclusion in subsequent pregnancies, and biochemical specificity of the mitochondrial translocase. J Pediatr 131: 220-225.
3. Ogier de Baulny H, Slama A, Touati G, et al (1995) Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase. J Pediatr 127: 723-727.
4. Pande SV, Brivet M, Slama A, et al (1993) Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. J Clin Invest 91: 1247-1252.
5. Rashed MS, Ozand PT, Bucknall MP, Little D (1995) Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res 38: 324-331.
6. Rashed MS, Bucknall MP, Little D, et al (1997) Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clin Chem 43: 1129-1141.