SULM – Schweizerische Union für Labormedizin | Union Suisse de Médecine de Laboratoire | Swiss Union of Laboratory Medicine

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N Blau1 , L Kierat1 , B Thöny1

1Division of Clinical Chemistry and Biochemistry, University Children’s Hospital, Zürich, Switzerland,

Objective: Although many neurometabolic disorders can be diagnosed through serum, urine, and/or CT/MRI investigations, CSF is the only informative sample for the differentiation of pediatric neurotransmitter diseases.
Methods: We investigated CSF from patients with suspected impaired biogenic amine neurotransmission by HPLC of amino acids, neurotransmitter metabolites, pterins, and folates.
Results: Preanalytical factors such as time of puncture, fraction, blood contamination, storage conditions, and medications may influence the concentration of metabolites. We investigated almost 4000 CSF samples and diagnosed 147 patients with PTPS deficiency, 75 with DHPR deficiency, 8 with GTPCH deficiency, 5 with SR deficiency, 19 with DRD (Segawa), 8 with TH deficiency, and 5 with AADC deficiency.
Conclusions: Many clinical signs and symptoms are not specific for a single neurometabolic disorder and extensive biochemical investigations are essential for the early diagnosis and appropriate treatment. CSF investigations should be considered in patients presenting with hypokinesia, distal chorea, myoclonic epilepsy, dystonia, oculogyric crises, hypersalivation, temperature instability, aggressive behavior, or mental retardation.

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