Lipids detected by brain MRS during coma caused by carnitine palmitoyltransferase 1 deficiency

Neurology

Volumn 67, Issue 8, 2006, Pages 1516-1517

  Roomets, E ^a,c   Lundbom, N ^a   Pihko, H ^b   Heikkinen, S ^a   Tyni, T ^b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c BIOMEDICUM HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; PROTEIN PALMITOYLTRANSFERASE 1; TRANSFERASE; UNCLASSIFIED DRUG;

ANAMNESIS; ARTICLE; CASE REPORT; CHILD; COMA; DNA DETERMINATION; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; FEMALE; FOLLOW UP; GENE MUTATION; HUMAN; HYPOGLYCEMIA; JAUNDICE; LABORATORY TEST; LIPID BRAIN LEVEL; PRIORITY JOURNAL;

BRAIN; CARNITINE O-PALMITOYLTRANSFERASE; COMA; FEMALE; HUMANS; IMAGING, THREE-DIMENSIONAL; INFANT; LIPID METABOLISM; MAGNETIC RESONANCE SPECTROSCOPY; METABOLISM, INBORN ERRORS;

EID: 33750368097     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000240118.82937.ed     Document Type: Article

References (7)

1. van der Knaap MS, van der Grond J, van Rijen PC, Faber JA, Valk J, Willemse K. Age-dependent changes in localized proton and phosphorus MR spectroscopy of the brain. Radiology 1990;176:509-515.
2. Morillas M, Lopez-Vinas E, Valencia A, et al. Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal. Biochem J 2004;379:777-784.
3. Ylitalo K, Vanttinen T, Halmesmaki E, Tyni T. Serious pregnancy complications in a patient with previously undiagnosed carnitine palmitoyltransferase 1 deficiency. Am J Obstet Gynecol 2005;192:2060-2062.
4. Vianey-Saban C, Mousson B, Bertrand C, et al. Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia. Eur J Pediatr 1993;152:334-338.
5. Miller JC, Gnaedinger JM, Rapoport SI. Utilization of plasma fatty acid in rat brain: distribution of [14C]palmitate between oxidative and synthetic pathways. J Neurochem 1987;49:1507-1514.
6. Blazquez C, Sanchez C, Velasco G, Guzman M. Role of carnitine palmitoyltransferase I in the control of ketogenesis in primary cultures of rat astrocytes. J Neurochem 1998;71:1597-1606.
7. 1H Magnetic resonance in the study of hepatic encephalopathy in humans. Metab Brain Dis 2002;17:415-429.