Screening for Organic Acid Disorders

Marklová, Eliška; Brátová, Miluše; Voříšek, Viktor

doi:10.14712/18059694.2020.37

Acta Medica > Archive > 1997, Vol. 40 > Issue 1 > Screening for Organic Acid Disorders

Acta Med. 1997, 40: 17-19

https://doi.org/10.14712/18059694.2020.37

Screening for Organic Acid Disorders

Eliška Marklová^a, Miluše Brátová^b, Viktor Voříšek^c

^aDepartment of Pediatrics, Faculty Hospital, Charles University, Hradec Králové, Czech Republic
^bDepartment of Gerontology & Metabolism, Faculty Hospital, Charles University, Hradec Králové, Czech Republic
^cDepartment of Clinical Biochemistry & Diagnostics, Faculty Hospital, Charles University, Hradec Králové, Czech Republic

Received April 1, 1997
Accepted May 1, 1997

The detection of organic acidurias is a part of our screening programme for inherited metabolic diseases. Adapted procedure is differentiated and involves several steps: 1) thin-layer chromatography (TLC) in the case of an abnormal finding followed by 2) gas chromatography (GC). The next step of the investigation, using 3) gas chromatography mass-spectrometry (GS-MS) is reserved for more complicated and dubious analyses. In acutely sick patients and in the case of discrepancies between TLC results on the one hand, and clinical symptoms, supported by other laboratory findings on the other, the GC or GC-MS-analysis is performed immediately. Some examples of metabolic disorders, identified by this procedure, are presented.