[50] Enzymic diagnosis of the genetic mucopolysaccharide storage disorders

Kresse, Hans; Figura, Kurt Von; Klein, Udo; Glössl, Josef; Paschke, Eduard; Pohlmann, R

doi:10.1016/0076-6879(82)83052-8

Cited by 52 publications

(27 citation statements)

References 19 publications

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“…The measurement of a-L-iduronidase and galactose-6-sulfatase enzyme activities were done to exclude Hurler and Morquio diseases (MPS type I and MPS type IVA), respectively. Enzymatic assays were carried out according to the methods described by Kresse et al [11]. Computed tomography of the brain, ophthalmologic examination including slit lamp, hearing assessment, IQ, echocardiography, abdomino-pelvic ultrasound, laboratory investigations including blood picture, blood glucose, and serum level of calcium, phosphorus, and alkaline phosphatase were carried out whenever indicated.…”

Section: Methodsmentioning

confidence: 99%

Dyggve–Melchior–Clausen syndrome: Clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families

Aglan

Temtamy

Fateen

et al. 2009

Journal of Children's Orthopaedics

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Introduction Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive type of skeletal dysplasia. It is characterized by the association of progressive spondyloepimetaphyseal dysplasia (SEMD), microcephaly, mental retardation (MR), and coarse facies. The radiographic appearance of generalized platyspondyly with double-humped end plates and the lace-like appearance of iliac crests are pathognomonic and distinctive of DMC syndrome. The disorder results from mutations in the DYM gene mapped in the 18q12-12.1 chromosomal region. Materials and methodsIn this report, we studied 15 Egyptian cases with DMC syndrome from nine unrelated families. We aimed to emphasize the characteristic clinical and radiological features in order to differentiate the condition from other SEMDs and mucopolysaccharidosis (MPS). Patients were subjected to detailed history taking, three-generation family pedigree analysis, complete physical examination, anthropometric measurements, quantitative estimation, and two-dimensional electrophoresis of glycosaminoglycans in the urine and measurement of a-L-iduronidase and galactose-6-sulfatase enzyme activities to exclude Hurler and Morquio diseases (MPS type I and MPS type IVA), respectively. Other investigations were carried out whenever indicated. All patients were the offspring of consanguineous apparently normal parents. Positive family history and similarly affected sibs were noted, confirming the autosomal recessive inheritance pattern of the syndrome. Short stature, microcephaly, variable degree of MR, and coarse facies were constant features. The frequency of characteristic orthopedic and radiological findings was reported. Orthopedic surgical intervention was carried out for two patients. Conclusions The study concluded that DMC syndrome may be more frequent in Egypt than previously thought, especially due to misdiagnosis. Characteristic facial dysmorphism, body habitus, and pathognomonic radiological signs suggest the diagnosis and differentiate it from other types of SEMDs and MPS for proper genetic counseling and management.

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Section: Methodsmentioning

confidence: 99%

Dyggve–Melchior–Clausen syndrome: Clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families

Aglan

Temtamy

Fateen

et al. 2009

Journal of Children's Orthopaedics

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“…At least 30 000 cells were acquired with a FACScan TM flow cytometer (Becton Dickinson), and analysis was performed using the Cell Quest TM software program (Becton Dickinson). Enzyme (galactocerebrosidase or alpha-l-iduronidase) activity [10][11][12] in peripheral blood WBC and plasma were assayed at day +21 and then once a month during the first year and once every 3 months during the second year after HSCT, using fluorogenic artificial substrates. Chimerism was assessed at the same time using semiquantitative variable nucleotide tandem repeats (VNTR) polymorphism evaluation of monocytes.…”

Section: Methodsmentioning

confidence: 99%

Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases

Gaipa

Dassi

Perseghin

et al. 2003

Bone Marrow Transplant

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Summary:T-cell depletion is an essential step in reducing the risk of graft-versus-host disease (GVHD) in patients with inherited metabolic storage diseases (IMSD) undergoing hematopoietic stem cell transplantation. This goal can be achieved either by selective removal of T cells or by positive selection of CD34+ cells. Large-scale preparations of purified CD34+ cells from bone marrow products have not been extensively described. We report our results with bone marrow CD34+ cell enrichment using the CliniMACS system in eight children with IMSD. The median recovery of positively selected CD34+ cells was 46.2% with a purity of 97.5%, and a residual T cell content of 0.04 Â 10 6 . A median of 5.5 Â 10 6 /kg of CD34+ cells was infused. All patients engrafted at a median time of 12 days and none of the patients developed GVHD. This method is technically feasible and can be successfully used to transplant children with IMSD.

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“…This emphasizes the importance of using a substrate preparation free of SO4-'. The effect of NaCl was less than that suggested by Kresse et al (8) who recommended that cell pellets not be homogenized in 0.15 M NaCl because this concentration was considered highly inhibitory toward GlcNAc 6-sulfatase activity. The primary cultures of amniotic fluid cells used in this study were prepared in 0.15 M NaCl although the concentration in the recommended incubation mixture was substantially less.…”

Section: Discussionmentioning

confidence: 59%

“…The diagnosis of MPS IIID is confirmed by demonstrating a deficiency of GlcNAc 6-sulfatase, EC 3.1.6.14) in cultured fibroblasts or leukocytes. The substrate used typically is the tritium labeled trisaccharide 0-(a-~-6-sulfo-2- (8) made from heparan sulfate through a lengthy sequence of steps (9). The use of the radiolabeled monosaccharide [1-'4C]GlcNAc(6S) for diagnosis of MPS IIID has been reported but has not found general usage perhaps because the reported rate of desulfation was greater for the trisaccharide and because free sulfate, an effective inhibitor of enzyme activity, was found to be difficult to remove after the preparation of GlcNAc(6S) by direct sulfation of GlcNAc with chlorosulfonic acid (10).…”

Section: Mps Iiid Was First Recognized When Kresse Et Al (3) Reportedmentioning

confidence: 99%

Sanfilippo Syndrome, Type D: A Spectrophotometric Assay with Prenatal Diagnostic Potential

1989

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ABSTRACT. Sanfilippo syndrome, type D (MPS IIID), is characterized by moderate physical abnormalities, progressive mental deterioration, and deficient activity of Nacetylglucosamine 6-sulfate sulfatase, a lysosomal hydrolase involved in the degradation of heparin, keratan sulfate, and heparan sulfate. To date, demonstration of the enzyme deficiency typically relies on a radiolabeled trisaccharide substrate derived from heparan sulfate. In our study, we have developed a spectrophotometric assay for the determination of N-acetylglucosamine 6-sulfate sulfatase activity using the monosaccharide, N-acetylglucosamine 6-sulfate, as substrate. The reaction mixture was incubated for 6 h at 37°C and, after Dowex chromatography, released N-acetylglucosamine was measured by a modification of the method of Reissig. Assay conditions were optimized for cultured skin fibroblasts and primary cultures of amniotic fluid cells. The pH optimum for each was 5.5. The assay was linear for 24 h and up to 0.1 absorbance units. Activities of the three known MPS IIID skin fibroblast cell lines were more than 4 SD below the skin fibroblast control mean and more than 5 SD below the control mean for amniotic fluid cells. An enzyme deficiency in cultured amniotic fluid cells of the same magnitude as the skin fibroblasts of the known patients would be detectable and, therefore, prenatal diagnosis by this method is feasible. (Pediatr Res 26:462-466, 1989)

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[50] Enzymic diagnosis of the genetic mucopolysaccharide storage disorders

Cited by 52 publications

References 19 publications

Dyggve–Melchior–Clausen syndrome: Clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families

Dyggve–Melchior–Clausen syndrome: Clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families

Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases

Sanfilippo Syndrome, Type D: A Spectrophotometric Assay with Prenatal Diagnostic Potential

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