Februari 2012
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Management of acute illnesses
The main goal is to provide sufficient glucose, to stimulate insulin secretion to levels that will not
only suppress fatty acid oxidation in liver and muscle but also block adipose tissue lipolysis.
1
In case of an acute episode the following measures are recommended:
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∙ Assess potential precipitants for metabolic decompensation (dehydration, fever, infection)
∙ If the patient is in a poor condition, check blood glucose, electrolytes, blood gas, ammonia and
liver function tests.
∙ Check for cardiac symptoms (disturbed rhythm or cardiomyopathy) ECG, chest X-ray and/or
cardiac echo.
∙ Start continuous glucose infusion in case of insufficient (oral) intake, vomiting, dehydration,
hypoglycaemia, metabolic acidosis or decreased alertness.
∙ Correct hypoglycaemia and/or metabolic acidosis.
∙ Use intravenous glucose fluid with adequate electrolyte levels.
∙ Treat precipitating factors to minimize further catabolism.
∙ Increase glucose infusion if the patient fails to improve.
Perioperative measures
The following perioperative measures are recommended:
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Stress avoiding premedication should be given preoperative.
Thorough preoperative cardiac evaluation, including electro- and echocardiography.
Glucose infusion (adapted to age and weight) should be given pre-, per- and postoperative.
Glucose and CK should be monitored per- and postoperative.
Use of propofol, succinylcholine and non-depolarizing muscle relaxants should be avoided.
(
Vellekoop?= geen LCHADD maar wel indicatief)
Intensive peroperative respiratory therapy.
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.
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Essential long chain fatty acid supplements are recommended in case of deficiency. Low plasma
concentrations of docosahexanoic acid (DHA) have been found in a few LCHADD patients and after
supplementation improvement has been reported in vision and nerve conduction.
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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.
Tyni T, Pihko H. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Acta Paediatr.
1999;88:237-245.
3.
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.