Februari 2012
25
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Perioperative measures
The following perioperative measures are recommended in VLCADD:
13
∙ Glucose infusion (adapted to age and weight) should be given pre-, per- and postoperative.
∙ Stress avoiding premedication should be given preoperative.
∙ Glucose and CK should be monitored per- and postoperative.
∙ Volatile anaesthetics and long chain fatty acid containing anaesthetics should be avoided.
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Pregnancy
Fertility appears to be unaffected in patients with VLCADD. Uneventful pregnancies have been
reported, although myoglobinuria after delivery has been described. Avoidance of prolonged
labour and glucose infusion is recommended.
8
Medication
Carnitine supplementation is considered controversial, since the accumulation of long chain
acylcarnitine esters possibly causes (ischemic) cardiac muscle pathology. At this time it is not
known if the benefit of preventing carnitine deficiency outweighs this potential cardiac risk.
Therefore it is currently recommended oral carnitine administering only to prevent carnitine
deficiency in plasma.
11
Future perspective
One study has show remarkable improvement of cardiac and muscular symptoms in three children
after dietary supplementation with triheptanoin, a seven carbon medium chain fatty acid.
14
No
further evidence for triheptanoin has thus far been reported.
Bezafibrate has been shown to increase palmitate oxidation in vitro in moderate VLCAD deficient
cells. Further clinical studies are in preparation.
15,16
6.1
Referenties
1.
Stanley CA, Bennet MJ, Mayatepek E. Disorders of Mitochondrial Fatty Acid Oxidation and
Related Metabolic Pathways. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH,
editors. Inborn Metabolic Diseases. Diagnosis and Treatment. 4th revised ed. Wurzburg,
Germany: Springer; 2006. 176-185.
2.
Roe CR, Ding J. Mitochondrial Fatty Acid Oxidation Disorders. In: Valle D, Beaudet A,
Vogelstein B, Kinzler K, Antonarakis S, Ballabio A, editors. Scriver's Metabolic and Molecular
Bases of Inherited Diseases Online. The Online Metabolic and Molecular Bases of Inherited
Diseases ed. New York : McGraw-Hill; 2011.
3.
Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, et al. Mutation
analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA
dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.
Hum
Mutat.
2001;18:169-189.
4.
Leslie ND, Tinkle BT, Strauss AW, Shooner K, Zhang K. Very Long Chain Acyl-Coenzyme A
Dehydrogenase Deficiency. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors.
GeneReviews [Internet] ed. Seattle: University of Washington; 1993.
5.
Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A. Diagnosis of very
long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
Pediatrics.
2001;108:
E19.
6.
Cox GF, Souri M, Aoyama T, Rockenmacher S, Varvogli L, Rohr F, et al. Reversal of severe
hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain
acyl-coenzyme A dehydrogenase deficiency.
J Pediatr.
1998;133:247-253.
7.
Gillingham MB, Scott B, Elliott D, Harding CO. Metabolic control during exercise with and
without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA
dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency.
Mol Genet Metab.
2006;89:58-63.