A diagnostic protocol for adult-onset glycogen storage disease type II

Ausems, Margreet G. E. M.; Lochman, Pavel; Diggelen, O. P. van; Amstel, Hans Kristian Ploos van; Reuser, Arnold; Wokke, John H. J.

doi:10.1212/wnl.52.4.851

Cited by 79 publications

(55 citation statements)

References 7 publications

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“…The greatest elevation is usually found in infantile-onset patients (as high as 2000 UI/L). Approximately 95% of late-onset patients have an elevated CK23; however, some adults with Pompe disease may have CK levels within the normal reference range. Serum enzymes such as aspartate aminotransferase (AST), alanine aminotransferase (ALT), or lactate dehydrogenase (LDH) may be elevated and may reflect enzymes released from muscle 24.…”

Section: Diagnostic Confirmationmentioning

confidence: 99%

Pompe disease diagnosis and management guideline

Kishnani

Steiner

Bali

et al. 2006

Genetics in Medicine

478

583

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Section: Diagnostic Confirmationmentioning

confidence: 99%

Pompe disease diagnosis and management guideline

Kishnani

Steiner

Bali

et al. 2006

Genetics in Medicine

478

583

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“…Acid α-glucosidase activity was determined as described by Ausems et al [10]. Prenatal diagnosis was performed as described by Kleijer et al [11].…”

Section: Methodsmentioning

confidence: 99%

Glycogen Storage Disease Type II: Birth Prevalence Agrees with Predicted Genotype Frequency

Ausems

Berg

Kroos³

et al. 1999

Public Health Genomics

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Objectives: To compare the overall birth prevalence of diagnosed glycogen storage disease type II (GSD II) with the predicted frequency based on mutation screening, in order to determine whether GSD II is an underdiagnosed condition, and to analyze which medical disciplines recognize GSD II. Methods: Retrospective data on all enzymatic diagnoses of GSD II were collected from diagnostic labs throughout the Netherlands, covering the period from January 1, 1972 to December 31, 1996. Age-specific diagnostic incidence rates were calculated for the entire study period. By adding together the diagnostic incidences for all age groups, we calculated the birth prevalence of diagnosed GSD II and compared these figures with the predicted frequency based on mutation screening in a random sample from the general population. The medical specialization of the referring clinicians was also recorded. Results: GSD II was diagnosed in 154 individuals, including 11 prenatal diagnoses. The birth prevalences of the various phenotypes were 1/101,000 (infantile form), 1/720,000 (juvenile form) and 1/53,000 (adult form). The birth prevalence of the adult and infantile phenotype together was 1/35,000. Eighty-two percent of the patients were diagnosed in university hospitals. Of the patients with infantile GSD II, 71% were diagnosed by a pediatrician, whereas most patients with adult GSD II were diagnosed by a neurologist (80%). Conclusions: There is no evidence for the underdiagnosis of GSD II in the Netherlands, as the calculated birth prevalences of the disease are consistent with previous predictions based on mutation screening in a random sample of newborns. The worldwide birth prevalence of the disease may well be higher than 1 in 100,000. GSD II is mainly diagnosed in university hospitals.

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“…Instead, analysis of GAA activity is preferred for initial screening due to its short turnaround time and non-invasiveness. 22 In cases of uncertain or conflicting laboratory test results (enzyme and molecular), muscle biopsies as a second-tier test may guide the physician and provide additional valuable information for the differential diagnosis. Physicians need to be aware that up to 25 % of adult patients with PD may have normal muscle biopsies without pathologic storage of glycogen on periodic acid-Schiff (PAS) staining.…”

Section: Muscle Biopsymentioning

confidence: 99%

The Diagnostic Path to Pompe Disease

Bodamer¹,

Hung²

2014

European Neurological Review

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Pompe disease (PD) is a lysosomal disease that primarily affects skeletal and smooth muscles due to a deficiency of acid alpha glucosidase.The resulting clinical phenotype reflects a continuum ranging from severe infantile to later onset forms of PD. Early diagnosis is essential to prevent long-term complications and/or disease progression through initiation of enzyme-replacement therapy. The diagnostic path to PD starts with the ascertainment of medical and family history as well as an in-depth clinical and neurological evaluation. The involvement of proximal muscle groups including hip and thigh muscles as well as the diaphragm is characteristic for later onset PD.Once PD is considered creatine kinase (CK) should be measured, realising that levels may be within normal limits in end stage disease.Ultimately, diagnostic confirmation is readily achieved by enzyme analysis in dried blood spots and/or leukocytes followed by molecular analysis. Muscle biopsy is not sensitive enough for diagnostic testing of PD but may be an important diagnostic test for the differential diagnosis of myopathies. Future diagnostic approaches include whole exome and genome sequencing, which may contribute to our understanding of genotype-phenotype correlation and phenotype prediction. KeywordsPompe disease, alpha glucosidase, glycogen storage disease II, diagnosis, laboratory testing, dried blood spot Disclosure: Olaf A Bodamer is a member of Genzyme speaker's bureau and has also received research funding. Christina Y Hung has no conflicts of interest to declare.

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A diagnostic protocol for adult-onset glycogen storage disease type II

Cited by 79 publications

References 7 publications

Pompe disease diagnosis and management guideline

Pompe disease diagnosis and management guideline

Glycogen Storage Disease Type II: Birth Prevalence Agrees with Predicted Genotype Frequency

The Diagnostic Path to Pompe Disease

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