Genetic Screening

A micro thin layer chromatography technique for urinary and serum amino acids using fluorescamine as a staining reagent

“…Although a patient with homocystinuria will most likely have increased Met (up to 0.4 mM) the increase is usually not high enough to be readily detected by this method. Fortunately, homocystinuria is a rare condition, 1 in 230,000 (Levy, 1973). If homocystinuria is strongly suspected, a two dimensional chromatography of the same plate followed by the same staining technique can be applied.…”

Congenital Expression of Prolidase Defect in Prolidase Deficiency

“…Filter paper specimens of dried blood that were used for routine newborn screening ( 13) and that were stored in envelops at room temperature were recovered. The samples included umbilical cord blood and newborn blood from two siblings with prolidase deficiency and newborn blood from a third sibling.…”

A geneticist's approach to psychiatric disease

“…Mental defect due to injury, infection, or metabolic upset is a disruption. Phenylketonuria is a heritable cause of mental deficiency that bears on the genetics of psychiatry as, indeed, many other metabolic disorders do (Levy, 1973). But the conclusion is privative only.…”