Newborn screening for lysosomal storage disorders

Meikle, Peter J.; Grasby, Dallas J.; Dean, Caroline J.; Lang, Debbie; Bockmann, Michelle; Whittle, Alison M.; Fietz, Michael; Simonsen, Henrik Toft; Fuller, Maria; Brooks, Doug A.; Hopwood, John J.

doi:10.1016/j.ymgme.2006.02.013

Cited by 153 publications

(120 citation statements)

References 40 publications

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“…Quantitative estimation and two-dimensional electrophoresis of glycosaminoglycans (GAGs) were studied in the urine of all patients to exclude the possibility of MPS [9,10]. 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.…”

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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“…births [7,8]. With the advent of newborn screening for several LSDs, including Fabry disease and Pompe disease, estimates of the incidence of LSDs are improving [9].…”

Section: Introductionmentioning

confidence: 99%

Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction

Kishnani

Dickson

Muldowney

et al. 2016

Molecular Genetics and Metabolism

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Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction, Molecular Genetics and Metabolism (2015), doi: 10.1016/j.ymgme.2015 This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. The opinions presented herein are those of the authors and do not reflect the positions of all participants nor the institutions they represent. A C C E P T E D M A N U S C R I P T ACCEPTED MANUSCRIPT A C C E P T E D M A N U S C R I P T ACCEPTED MANUSCRIPT

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“…LSDs form a group of about 50 diseases (Wraith 2002) with an estimated incidence of 1:7,000 live births (Meikle et al 1999b;Poorthuis et al 1999). LSDs are classified according to the substrate stored: sphingolipidoses, such as Gaucher disease (GD) or Fabry disease (FD); mucopolysaccharidoses (MPS); glycoproteinoses; and others (Gieselmann 1995;Raas-Rothschild et al 2004).…”

Section: Introductionmentioning

confidence: 99%

Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease

et al. 2012

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Summary Objective: To evaluate QoL in a sample of Brazilian patients with Gaucher (GD) and Fabry (FD) disease using the SF-36 survey.Method: Observational cross-sectional study. The SF-36 survey was administered to cognitively able patients 12 years or older, who were seen in the Medical Genetics Service of Hospital de Clínicas de Porto Alegre, Brazil.Results: Thirty-five patients were included in the study (GD ¼ 21, FD ¼ 14), mean age was 29.8 AE 14. Discussion and Conclusion: Although limited because of the small number of patients included, findings suggest that patients with GD receiving ERT have a better QoL than patients with FD or with GD not receiving ERT. Imiglucerase has a beneficial effect against pain for patients with GD. Further studies should be conducted to confirm our findings.

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Newborn screening for lysosomal storage disorders

Cited by 153 publications

References 40 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

Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction

Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease

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