The Hurler syndrome: detection of patients and heterozygotes using a microassay for α-l-iduronidase in fibroblasts

Kleijer, W. J.; Hensing-Wolffers, G.M.; Thompson, E.J.; Niermeijer, M. F.

doi:10.1016/0009-8981(81)90167-4

Cited by 5 publications

(3 citation statements)

References 18 publications

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“…In none of the 52 MPS IH patients studied in this laboratory did we find a high residual Idu activity. Heterozygote levels as low as 20 per cent of the mean control activity were occasionally found (Kleijer et al, 1981) but these are still clearly distinct from the residual activities measured in patients' cells.…”

Section: Discussionmentioning

confidence: 72%

“…Idu activity in whole cell homogenates and in the supernates of liver homogenates was assayed using a microassay as described (Galjaard, 1980;Kleijer et al, 1981) with phenyl a-L-iduronide as the substrate (prepared by Dr B. Weissman under contract NIH-NIAMDD 73-2205) and N2,6 trichloro-p-benzoquinoneimine as colour reagent.…”

Section: Biochemical Analysesmentioning

confidence: 99%

“…The present report describes our experience with the investigation of 40 pregnancies at risk of MPS IH. Both 3%-sulphate incorporation and Idu activity have been measured, the latter with microassays using phenyl a-L-iduronide or 4-methylumbelliferyl a -~iduronide as substrates, which enable a prenatal diagnosis within 15 to 18 days (Galjaard, 1980;Kleijer et al, 1981).…”

Section: Introductionmentioning

confidence: 99%

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Prenatal diagnosis of the hurler syndrome: Report on 40 pregnancies at risk

1983

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In 40 pregnancies at risk for the Hurler syndrome 13 affected fetuses were detected by the demonstration of an alpha-L-iduronidase deficiency and an increased level of 35S-sulphate incorporation. The diagnosis were confirmed by the analysis of fetal tissues and/or cultured fetal skin fibroblasts. Microassays for alpha-L-iduronidase, using phenyl alpha-L-iduronide and more recently 4-methyl-umbelliferyl alpha-L-iduronide, enabled a reliable diagnosis to be made within 15 to 18 days after amniocentesis. 35S-sulphate incorporation has been a valuable adjunct in cases with a low (heterozygote) enzyme activity.

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Section: Discussionmentioning

confidence: 72%

Section: Biochemical Analysesmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Prenatal diagnosis of the hurler syndrome: Report on 40 pregnancies at risk

1983

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Glycosaminoglycan Degradation

Kresse¹,

GlüSSL²

1987

Advances in Enzymology - And Related Areas of Molecular Biology

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A nonpathologic allele (I^W) for low α‐L‐iduronidase enzyme activity vis‐a‐vis prenatal diagnosis of Hurler syndrome

1987

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We identified a phenotypically normal obligate heterozygote for Hurler syndrome with exceedingly low levels of alpha-L-iduronidase enzyme activity. Subsequent investigation determined that low alpha-L-iduronidase activity was systemic, also characteristic of the subject's leukocytes and cultured skin fibroblasts. Residual alpha-L-iduronidase activity of cultured fibroblasts was found to have reduced catalytic activity (Vmax) against the 4-methylumbelliferone substrate, but normal substrate affinity (KM). Additional studies further characterized the residual enzyme activity in this woman who is an apparent compound heterozygote for Hurler syndrome, and for an allele with low alpha-L-iduronidase activity lacking pathologic manifestation. Such low activity "pseudodeficiency" alleles will complicate attempts at prenatal diagnosis of Hurler syndrome and related disorders in rare families.

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The Hurler syndrome: detection of patients and heterozygotes using a microassay for α-l-iduronidase in fibroblasts

Cited by 5 publications

References 18 publications

Prenatal diagnosis of the hurler syndrome: Report on 40 pregnancies at risk

Prenatal diagnosis of the hurler syndrome: Report on 40 pregnancies at risk

Glycosaminoglycan Degradation

A nonpathologic allele (I^W) for low α‐L‐iduronidase enzyme activity vis‐a‐vis prenatal diagnosis of Hurler syndrome

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The Hurler syndrome: detection of patients and heterozygotes using a microassay for α-l-iduronidase in fibroblasts

Cited by 5 publications

References 18 publications

Prenatal diagnosis of the hurler syndrome: Report on 40 pregnancies at risk

Prenatal diagnosis of the hurler syndrome: Report on 40 pregnancies at risk

Glycosaminoglycan Degradation

A nonpathologic allele (IW) for low α‐L‐iduronidase enzyme activity vis‐a‐vis prenatal diagnosis of Hurler syndrome

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Product

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A nonpathologic allele (I^W) for low α‐L‐iduronidase enzyme activity vis‐a‐vis prenatal diagnosis of Hurler syndrome