Short report
A new simple enzyme assay for pre- and postnatal diagnosis
of infantile neuronal ceroid lipofuscinosis (INCL) and its variants
Y V Voznyia, J L M Keulemansb, G M S Mancinib, C E Catsman-Berrevoetsc, E Youngd, B Winchesterd, W J Kleijerb, O P van Diggelenb
a Institute of Organic
Chemistry, Moscow, Russia, b Department of Clinical Genetics, University
Hospital, Erasmus University, PO Box 1738, 3000 DR Rotterdam, The
Netherlands, c Department of
Child Neurology, University Hospital, Erasmus University, Rotterdam,
The Netherlands, d Institute
of Child Health, London, UK
Correspondence to: Dr van Diggelen.
Received 13 August
1998;
Revised version accepted for publication 15 December 1998
Palmitoyl-protein thioesterase (PPT) deficiency was recently
shown to be the primary defect in infantile neuronal ceroid
lipofuscinosis (INCL). The available enzyme assay is complicated and
impractical for diagnostic use and is, in practice, unavailable. We
have developed a new fluorimetric assay for PPT based on the sensitive
fluorochrome 4-methylumbelliferone. This PPT assay is simple,
sensitive, and robust and will facilitate the definition of the full
clinical spectrum associated with a deficiency of PPT. PPT activity was readily detectable in fibroblasts, leucocytes, lymphoblasts, amniotic fluid cells, and chorionic villi, but was profoundly deficient in these
tissues from INCL patients. Similarly, a deficiency of PPT was shown in
patients with the variant juvenile NCL with GROD. These results show
that rapid pre- and postnatal diagnosis can be performed with this new
enzyme assay for PPT.
Keywords: infantile neuronal ceroid lipofuscinosis; CLN1; palmitoyl-protein thioesterase; enzyme analysis
© 1999 by J Med Genet
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