Hereditary defects in amino acid metabolism are involved in several neurological disorders,1,5,7,14,17,22 and the urinary excretion pattern has been shown to be a useful diagnostic aid.9 Qualification of the amino acid content of a sample can best be done on an automatic analyzer. However, this technique requires 2416 to 48 hours19 for each assay for physiological fluids, with only one sample being examined at a time. This approach is unsuitable for the large-scale study of clinical populations. A screening procedure is necessary so that large numbers of patients can be routinely examined and those with a frankly normal distribution pattern eliminated without time-consuming quantitative analysis.
Rapidity and small expense have encouraged the use of circular paper chromatography as a screening technique,6 but this approach sacrifices resolution for speed. The "group" separation that is achieved is often inadequate. Thin-layer chromatography,20 as a routine tool
SAMUELS S. High-Resolution Screening of Amino-Acidurias. Arch Neurol. 1964;10(3):322–326. doi:10.1001/archneur.1964.00460150092009
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