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Lecture - News in Pediatric Laboratory Medicine

FML seminar: Metabolic Disorders in Infancy and State of the Art in Newborn Screening in Dubai, Dec 10, 2011

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News in Pediatric Laboratory Medicine

Associate Professor Michaela Jaksch, MD PhD
Freiburg Medical Laboratory ME LLC, Dubai

Abstract

Worldwide, inherited metabolic disorders in infancy and childhood are rarely recognized and diagnosed efficiently - requiring an interdisciplinary work-up of feto-maternal specialists, pediatricians, neurologists with radiologists and specialized pathologists.

In brief, a metabolic disorder is a disturbance in one of the biochemical pathways in the body. Pathways in cell organelles can be affected known as peroxisomal, lysosomal, mitochondrial disorders or pathways in the cytosol, for example the glycolysis. In fact, every subcellular compartment such as the plasma membrane, the nucleus, the endoplasmatic reticulum, the Golgi apparatus plays a role in biochemical processes (synthesis, degradation, detoxification etc) and can therefore be affected. Due to genetic studies and due to better classifications, hundreds of different metabolic disorders are now known. Most of these inherited metabolic disorders are monogenic autosomal-recessive traits and are more common in consanguineous families. As biochemical pathways affect the whole body, clinical symptoms are rarely connected to one organ only; the clinical picture often presents as syndrome, for example epilepsy, growth retardation, ataxia and regression.

Acquired or polygenic metabolic disorders, such as Diabetes mellitus or gout (despite genetic susceptibility) do not belong to this group. 

Today, I will focus on the most common inherited metabolic disorders and how they can be easily recognized using diagnostic laboratory tools.


References

Horvath R, Jaksch M (2006) J Neurol Neurosurg Psychiatry, 77: 74 – 76
Horvath R, Jaksch M (2005) J Inherit Metabol Dis 28: 479-492
Chinnery PF, Jaksch M, Turnbull DM (2004) Lancet 364:592-596
Freisinger P, Jaksch M (2004) J Inherit Metab Dis: 27:67-79.
Horvath R, Jaksch M (2003) J Med Genet, 40:752-757
Horvath R, Jaksch M (2002) J Med Gen, October issue
Jaksch M et al.(2001) J Med Genet 38:665-673.
Jaksch M et al. (2001) Neurology 57:1440-1446
Jaksch M et al. (2001) Hum Mol Genet 26: 3025-3035
Jaksch M et al. (2000) Hum Mol Genet 9: 795-801.
Jaksch M et al (1998) Ann Neurol 44: 635-641
Jaksch M et al. (1998) J Med Gen 35: 895-900

 



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FML seminar: Metabolic Disorders in Infancy and State of the Art in Newborn Screening in Dubai, Dec 10, 2011


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