Aspartylglucosaminuria: Psychomotor retardation masquerading as a mucopolysaccharidosis

Isenberg, J. Nevin; Sharp, H.arvey L.

doi:10.1016/s0022-3476(75)80355-6

Cited by 31 publications

(16 citation statements)

References 7 publications

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“…About 20 sporadic AGU patients have been reported in the literature (1,(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20) Genomic DNA was isolated from fibroblast cell lines or peripheral blood leukocytes of the AGU patients using standard procedures (21). Total RNA was purified from the fibroblast cell lines (22) and poly(A)+ RNA was isolated using oligo(dT)-cellulose chromatography.…”

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confidence: 99%

Spectrum of mutations in aspartylglucosaminuria.

Ikonen

Aula

Grön

et al. 1991

Proc. Natl. Acad. Sci. U.S.A.

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Aspartyucaminuria (AGU) Is an inherited lysosomal storage disoder caused by the deficiency of aspartylguminidase. We have earlier reported a single missense mutation (Cys"*3 -~Ser) to be responsible for 98% of the AGU alleles in the isolated Finnish population, which contains about 90% of the reported AGU patients. Here we describe the spectrum of 10 AGU mutations found in unrelated patients of non-Finnish origin. Since 11 out of 12 AGU patients were homozygotes, con g ity has to be a common denominator in most AGU families. The mutations were distributed over the entire coding region of the aspartylgi cDNA, except in the carboxyl-terminal 17-kDa subunit in which they were clustered within a 46-amino acid region. Based on the character of the mutations, most of them are prone to affect the folding and stability and not to directly affect the active site of the aspartylglucosaminidase enzyme.

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confidence: 99%

Spectrum of mutations in aspartylglucosaminuria.

Ikonen

Aula

Grön

et al. 1991

Proc. Natl. Acad. Sci. U.S.A.

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“…However patients from other ethnic groups have been reported recently [Isenberg and Sharp, 1975;Gehler et al, 1981;Gatti et al, 1982;Hreidarsson et al, 19831, in addition to the original English patients of Pollitt et a1 [ 19681. The enzyme deficiency has been demonstrated in cultured fibroblasts from AGU patients [Aula et al, 19731, and it has also been shown that cultured amniotic fluid cells express AADGase activity at levels comparable with those of cultured fibroblasts [Aula et al, 19741. Carrier detection in AGU is also possible using AADGase assay on isolated lymphocytes from peripheral blood [Ada et al, 19761.…”

Section: Introductionmentioning

confidence: 94%

Prenatal diagnosis and fetal pathology of aspartylglucosaminuria

et al. 1984

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The prenatal diagnosis of aspartylglucosaminuria (AGU), a lysosomal storage disorder of glycoprotein degradation, was made by demonstrating the deficiency of N-aspartylglucosaminidase on cultured cells from a midterm amniotic fluid sample. Four other amniotic fluid studies from at-risk pregnancies gave a normal or a heterozygote level of enzyme activity. These pregnancies have gone to term and the delivery of healthy babies. The pregnancy with the affected fetus was terminated and the prenatal diagnosis was verified by enzyme assays on cord blood lymphocytes, cultured cells from skin biopsy, and from placental villi. Electron microscopic evidence of lysosomal storage was seen in several organs of the fetus with the notable exception of the central nervous system. The undifferentiated mesenchymal fibroblasts particularly were heavily loaded with cytoplasmic inclusions in skin, liver, kidney, and placenta.

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“…IIall and Neufcld (9) demonstrated that the cu-L-iduronidase activity of Hurler heterozygous cdtured skin fibroblasts varied from 20 t o 95% of normal, with a mean value of 46%. This range overlapped that of material obtained from normal control subjects.…”

Section: Speculationmentioning

confidence: 99%

“…Using phenyl-cu-L-iduronide as a substrate, cu-L-iduronidase activity has been demonstrated to be reduced in leukocytes, serum, and cultured skin fibroblasts from obligate neterozygotes for the Hurler and Scheie syndronies (9,14). IIall and Neufcld (9) demonstrated that the cu-L-iduronidase activity of Hurler heterozygous cdtured skin fibroblasts varied from 20 t o 95% of normal, with a mean value of 46%.…”

Section: Speculationmentioning

confidence: 99%

“…The assay was used for ized by deficient activity of the lysosomal enLyme (ec. 3.2.1.76) controlled studies of families in which the Hurler syndrome has a-L-iduronidase (2,9,14,16). This enzymatic defect results in occurred and appears to be sufficiently accurate and precise to generalized lysosomal accumulation and excessive urinary excre-enable the detection of heterozygosity with greater than 95% contion of partially degraded mucopolysaccharides containing fidence.…”

Section: Speculationmentioning

confidence: 99%

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