Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies

European Journal of Pediatrics
J M TrijbelsH F Busch

Abstract

Patients suffering from a mitochondrial (encephalo-)myopathy have a remarkable clinical heterogeneity. A reliable and extensive investigation must be performed in order to obtain a correct diagnosis, but many factors may influence the ultimate results of these investigations leading, under certain circumstances, to an incorrect diagnosis. Patients selection is of crucial importance. Metabolic examination of body fluids, particularly with respect to lactate accumulation, is used as a selection criterion for further examinations. Numerous aspects associated with this metabolic examination have been critically evaluated, including the phenomenon of other causes of lactic acidaemia apart from mitochondrial disorders. Correct performance of in vivo function tests may contribute to a reduction of the number of missed diagnoses. Selection of the controls for biochemical investigations must be accurately be performed to obtain reliable reference values. Knowledge of the age-dependency of the biochemical parameters is necessary for a correct interpretation. It goes without saying that the choice of the tissue for biochemical investigations is of utmost importance. Knowledge of the tissue-specific occurrence of some defects in the mitoch...Continue Reading

References

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Citations

Jun 1, 2001·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·L van den Heuvel, J Smeitink
Feb 1, 1994·European Journal of Pediatrics·D A ApplegarthL A Clarke
Jan 1, 1995·European Journal of Pediatrics·H R Scholte, J M Trijbels
Aug 27, 2005·Mitochondrion·Karen SetterfieldJohn Christodoulou
Sep 1, 1994·Acta Paediatrica·J NielsenO Borud
Jul 11, 2006·Clinica Chimica Acta; International Journal of Clinical Chemistry·Paule BénitPierre Rustin
Oct 18, 2003·Gastroenterology Clinics of North America·Lynette A Gillis, Ronald J Sokol
Dec 4, 2004·Biochimica Et Biophysica Acta·David R ThorburnMichael T Ryan
Jul 1, 2004·Journal of Child Neurology·Tally Lerman-SagieDorit Lev
Oct 2, 2001·American Journal of Medical Genetics·A Munnich, P Rustin
Jun 11, 2004·Journal of Inherited Metabolic Disease·D R Thorburn
Mar 14, 2001·Journal of Neuropathology and Experimental Neurology·H Vogel
Aug 1, 1997·Journal of Inherited Metabolic Disease·P BrionesE Agsteribbe
May 24, 1995·Biochimica Et Biophysica Acta·H R ScholteL P Kuyt

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