Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi

E P Young; B G Winchester; W Peter Logan; R B Wheeler; B D Lake

Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi

Prenat Diagn. 2000 Apr;20(4):337-9.

Authors

E P Young¹, B G Winchester, W Peter Logan, R B Wheeler, B D Lake

Affiliation

¹ Chemical Pathology, Great Ormond Street Hospital NHS Trust, Great Ormond Street, London WC1N 3JH, UK.

PMID: 10740208

Abstract

We report the exclusion of late infantile neuronal ceroid lipofuscinosis in a fetus by assay of tripeptidyl peptidase I activity and by mutational analysis in chorionic villi. This is the first pregnancy at risk for LINCL to be monitored by enzyme assay. No morphological abnormalities were detected.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Aminopeptidases
Child, Preschool
Chorionic Villi / enzymology*
Chorionic Villi Sampling*
Cytogenetic Analysis
DNA Mutational Analysis
Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
Endopeptidases / analysis*
Endopeptidases / genetics
Fatal Outcome
Female
Humans
Neuronal Ceroid-Lipofuscinoses / diagnosis*
Neuronal Ceroid-Lipofuscinoses / enzymology
Pregnancy
Serine Proteases
Tripeptidyl-Peptidase 1

Substances

Tripeptidyl-Peptidase 1
Endopeptidases
Serine Proteases
Aminopeptidases
Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
TPP1 protein, human