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Applications of a New Fluorimetric Enzyme Assay for the Diagnosis of Aspartylglucosaminuria

Applications of a New Fluorimetric Enzyme Assay for the Diagnosis of Aspartylglucosaminuria

Voznyi YaV, J L Keulemans, W J Kleijer, P Aula, G R Gray, O P van Diggelen

J Inherit Metab Dis. 1993;16(6):929-34.

PMID: 8127068

Abstract:

L-Aspartic acid-beta-7-amido-4-methylcoumarin is a sensitive and specific fluorogenic substrate for lysosomal glycoasparaginase (aspartylglucosaminidase). Fibroblasts and leukocytes from 8 patients with aspartylglucosaminuria, showed 1-7% of the mean normal glycoasparaginase activity. Heterozygotes showed intermediate activities. Glycoasparaginase activity in chorionic villi, cultured trophoblasts, cultured amniotic fluid cells and amniotic fluid was readily detectable, indicating that prenatal analysis of aspartylglucosaminuria should be possible with this assay. beta-Aspartyl-4-methylumbelliferone was synthesized but this potential substrate can not be used to assay glycoasparaginase since it hydrolyses spontaneously.

Chemicals Related in the Paper:

Catalog Number	Product Name	Structure	CAS Number	Price
AP133628736	L-Aspartic acid β-(7-amido-4-methylcoumarin)		133628-73-6	Price

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