HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Clinical and biochemical monitoring of patients with fatty acid oxidation disorders.

Abstract
Evidence-based guidelines for monitoring patients with disorders in fatty acid oxidation (FAO) are lacking, and most protocols are based on expert statements. Here, we describe our protocol for Danish patients. Clinical monitoring is the most important measure and has the main aims of checking growth, development and diet and of bringing families to the clinic regularly to remind them of their child's risk and review how they cope and adjust, e.g. to an acute intercurrent illness. Most of these measures are simple and can be carried out during a routine out-patient visit; we seldom do more complicated assessments by a neuropsychologist, speech therapist, or physical and occupational therapists. Paraclinical measurements are not used for short-chain and medium-chain disorders; electrocardiography (including 24 h monitoring) and echocardiography are done for most patients with long-chain and carnitine transporter deficiencies. Eye examination is done in all, and liver ultrasonography in some patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase/tri-functional protein (LCHAD/TFP) deficiencies. Biochemical follow-up includes determination of free carnitine and acylcarnitines. Free carnitine is measured to monitor carnitine supplementation in patients with multiple acyl-coenzyme A dehydrogenase deficiency (MADD) and carnitine transporter deficiency (CTD) and to follow metabolic control and disclose deficiency states in other FAO disorders. We are evaluating long-chain acylcarnitines in patients with long-chain disorders; so far there does not seem to be any clear-cut benefit in following these levels. An erythrocyte fatty acid profile is done in patients with long-chain disorders to test for essential fatty acid and docosahexanoic acid (DHA) deficiencies. The measurement of creatine kinase is helpful in long-chain disorders. Ongoing follow-up and education of the patient is important throughout life to prevent disease morbidity or death from metabolic crises.
AuthorsAllan Meldgaard Lund, Flemming Skovby, Helle Vestergaard, Mette Christensen, Ernst Christensen
JournalJournal of inherited metabolic disease (J Inherit Metab Dis) Vol. 33 Issue 5 Pg. 495-500 (Oct 2010) ISSN: 1573-2665 [Electronic] United States
PMID20066495 (Publication Type: Journal Article, Review)
Chemical References
  • Biomarkers
  • Fatty Acids
Topics
  • Adolescent
  • Adult
  • Biomarkers (blood)
  • Child
  • Child, Preschool
  • Continuity of Patient Care
  • Energy Metabolism (genetics)
  • Fatty Acids (metabolism)
  • Genotype
  • Health Knowledge, Attitudes, Practice
  • Humans
  • Infant
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors (diagnosis, enzymology, genetics, therapy)
  • Mitochondria (enzymology)
  • Mitochondrial Diseases (diagnosis, enzymology, genetics, therapy)
  • Oxidation-Reduction
  • Patient Education as Topic
  • Phenotype
  • Predictive Value of Tests
  • Prognosis
  • Time Factors
  • Young Adult

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: