Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families

Ausems, Margreet G. E. M.; Berg, K. ten; Beemer, Frits A.; Wokke, John H. J.

doi:10.1016/s0960-8966(00)00123-1

Cited by 29 publications

(21 citation statements)

References 23 publications

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“…5,6 Even in the mouse model, different phenotypes are observed among knock out mice with different backgrounds. 7 To identify possible genetic factors that can modify the clinical presentation of patients with Pompe disease, we investigated the ACE insertion/deletion polymorphism in a population of 38 juvenile/adult cases.…”

Section: Discussionmentioning

confidence: 99%

“…3,4 Clinical heterogeneity is a well known feature of GSD II, which is more frequently observed among late-onset patients 5 and is reported even within families. 5,6 Animal models too show clinical heterogeneity. 7 In this study, we focused our attention on elucidating whether the well-known insertion/deletion polymorphism in the Intron 16 of the angiotensin-converting enzyme (ACE) may modify some aspects of the clinical picture of Pompe disease.…”

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confidence: 99%

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The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

Filippi

Ravaglia

Bembi

et al. 2010

Genetics in Medicine

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Purpose:The insertion/deletion polymorphism of angiotensin-converting enzyme may influence muscle properties. We examined whether Pompe disease clinical manifestations, which are known to be highly variable among late-onset patients, may be modulated by angiotensinconverting enzyme polymorphism. Methods: We included 38 patients with late-onset Pompe disease, aged 44.6 Ϯ 19.8 years. We compared the distribution of angiotensin-converting enzyme polymorphism according to demographic and disease parameters. Results: The distribution of angiotensin-converting enzyme polymorphism was in line with the general population, with 16% of patients carrying the II genotype, 37% carrying the DD genotype, and the remaining patients with the ID genotype. The three groups did not differ in mean age, disease duration, Walton score, and other scores used to measure disease severity. The DD polymorphism was associated with earlier onset of disease (P ϭ 0.041), higher creatine kinase levels at diagnosis (P ϭ 0.024), presence of muscle pain (P ϭ 0.014), and more severe rate of disease progression (P ϭ 0.037, analysis of variance test for interaction). Discussion: These findings suggest a potential role of angiotensin-converting enzyme polymorphism in modulating Pompe disease phenotype and prognosis. Genet Med 2010:12(4):206 -211.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

Filippi

Ravaglia

Bembi

et al. 2010

Genetics in Medicine

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“…IVS1(−13T→G), 525ΔT and Δexon 18 [9,11]. Not Establishing the diagnosis of M. Pompe in asymptomatic cases has been reported mainly in sibs of affected individuals [3,22], but also following routine check-up [7]. Danon et al [5] described two brothers suffering from M. Pompe.…”

Section: Discussionmentioning

confidence: 99%

“…The residual enzyme activity does not predict disease progression [22]. Genotype cannot predict the outcome either, as even within families the phenotypical range is wide [3]. Even though elevated plasma CK concentrations are highly sensitive in detecting muscle damage in M. Pompe, CK concentrations are not related to severity of handicap [22].…”

Section: Discussionmentioning

confidence: 99%

Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease

et al. 2006

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An asymptomatic boy, aged 1.5 years, was referred with presumed liver disease because of persistently increased transaminase. Ultimately Pompe disease was confirmed, without specific abnormalities in muscle biopsy. This case demonstrates that increased transaminases do not always suggest liver disease. It is hard to determine prognosis and to decide whether enzyme replacement therapy should be started in asymptomatic patients with Pompe disease.

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“…6,8 Importantly, asymptomatic patients with PD have been reported. 9 Residual GAA activity correlates with severity of PD, such that infantile onset patients show complete absence of enzyme activity whereas later onset patients retain up to 30 % residual enzyme activity. 8 PD is a pan-ethnic disease with an estimated frequency of 1:40,000, although recent reports from newborn screening studies suggest that PD may be more frequent.…”

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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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Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families

Cited by 29 publications

References 23 publications

The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease

The Diagnostic Path to Pompe Disease

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