Screening method for mucopolysaccharidoses.
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Biomedical subjects
Publications and source records attributed to P Lowdon.
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Acetylcholinesterase (AChE) activity in amniotic fluid was assayed directly by a reaction rate method at 30 degrees C using acetylthiocholine iodide as substrate and ethopropazine as a safe 'pseudo' cholinesterase inhibitor. Fresh samples from 101 normal pregnancies of 14-24 weeks gestation had a mean AChE activity of 2.56 u/l (SD 1.10). Elevated levels of AChE were found in association with open spina bifida (5.5-20.4 u/l), anencephaly (10.2-19.5 u/l), exomphalos (2.7-15.6 u/l), intrauterine death (30.2-59.3 u/l) and Turner's syndrome (36.4 u/l) but not with closed spina bifida or rhesus isoimmunisation. When AChE activity was expressed as a percentage of the total cholinesterase activity ('percentage AChE'), there was a good correlation between AChE activity and 'percentage AChE' in normal pregnancies and the values associated with the 37 pregnancies affected by open neural tube defects (NTD) fell outside the 99.9 per cent confidence limits of the normal group. Qualitative differences in cholinesterase activity could be demonstrated between the groups with exomphalos and open NTD. It is suggested that the assay might be used satisfactorily to demonstrate the presence of open NTD in affected pregnancies.
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Acetylcholinesterase (AChE) activity was measured in rectal biopsy specimens obtained from 68 children aged between 2 days and 14 1/2 years in whom Hirschsprung's disease was suspected. The diagnosis was subsequently established in 12; in these, the mean AChE activity was found to be 30.5 X 10(-7) units/g tissue (range 16.9 to 63.0). The 56 non-Hirschsprung cases had a mean of 5.0 X 10(-7) units/g tissue (S.D. 2.2), the highest value in this group being 10.9. The results were unaffected by age, sex, nature of biopsy procedure, or the presence of blood. It is suggested that the assay of AChE activity in rectal biopsy material is a simple and quick procedure that is useful in the diagnosis of Hirschsprung's disease.