A variant of mucolipidosis. II. Clinical, biochemical and pathological investigations

We present in this paper a patient with a clinically intermediate form of mucolipidosis (ML). Lysosomal hydrolase activity in fibroblasts was normal and levels of these enzymes in culture media were not elevated. There was a striking elevation of several hydrolases in serum and a deficiency (15% of...

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Bibliographic Details
Published inEuropean journal of pediatrics Vol. 147; no. 3; p. 321
Main Authors Poenaru, L, Castelnau, L, Tome, F, Boue, J, Maroteaux, P
Format Journal Article
LanguageEnglish
Published Germany 01.04.1988
Subjects
Cells, Cultured
Dwarfism - diagnostic imaging
Dwarfism - enzymology
Dwarfism - pathology
Fibroblasts - enzymology
Fibroblasts - ultrastructure
Humans
Hydrolases - blood
Infant
Male
Mucolipidoses - diagnostic imaging
Mucolipidoses - enzymology
Mucolipidoses - pathology
Phosphotransferases - blood
Phosphotransferases - deficiency
Radiography
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Summary:We present in this paper a patient with a clinically intermediate form of mucolipidosis (ML). Lysosomal hydrolase activity in fibroblasts was normal and levels of these enzymes in culture media were not elevated. There was a striking elevation of several hydrolases in serum and a deficiency (15% of normal) of N-acetyl-glucosamine phosphotransferase in fibroblasts. Atypical electron microscopic findings were also observed. There was no evidence of increased synthesis, slower turnover, unbalanced distribution or further changes in lysosomal enzymes. Phosphotransferase deficiency against endogenous beta-glucosaminidase and the fact that the electrophoretic mobility of lysosomal enzymes was identical to that of MLII suggest that these enzymes are not phosphorylated. Hypotheses that could explain this atypical pathology are discussed.
ISSN:0340-6199
DOI:10.1007/BF00442708