Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease

Martiniuk, Frank; Chen, Agnes; Mack, Adra; Arvanitopoulos, Eleni; Chen, Ying; Rom, William N.; Codd, William J.; Hanna, Bruce A.; Alcabes, Phil; Raben, Nina; Plötz, Paul H.

doi:10.1002/(sici)1096-8628(19980827)79:1<69::aid-ajmg16>3.0.co;2-k

Cited by 183 publications

(130 citation statements)

References 7 publications

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“…A recent study of randomly selected normal individuals from the New York area of various ethnic origins indicated a carrier frequency of about 1 in 100, based on testing for seven different mutations. 17 These mutations constitute only 29% of the chromosomes from 74 GSD II patients, and therefore the extrapolations are considerably less accurate than ours, but coincidentally the estimated frequency of GSD II in the New York study was also 1 in 40 000. Thus, the overall frequency of GSD II is about two to four times higher than previously estimated.…”

Section: Discussioncontrasting

confidence: 66%

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

et al. 1999

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Glycogen storage disease type II (GSD II) is an autosomal recessive myopathy. Early and lateonset phenotypes are distinguished -infantile, juvenile and adult. Three mutations in the acid α-glucosidase gene are common in the Dutch patient population: IVS1(-13T→G), 525delT and delexon18. 63% of Dutch GSD II patients carry one or two of these mutations, and the genotype-phenotype correlation is known. To determine the frequency of GSD II, we have screened an unselected sample of neonates for the occurrence of these three mutations. Based on the calculated carrier frequencies, the predicted frequency of the disease is 1 in 40 000 divided by 1 in 138 000 for infantile GSD II and 1 in 57 000 for adult GSD II. This is about two to four times higher than previously suggested, which is a reason to become more familiar with the presentation of GSD II in its different clinical forms and to adjust the risk assessment for genetic counselling.

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Section: Discussioncontrasting

confidence: 66%

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

et al. 1999

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“…In the Netherlands, the incidence of the infantile-onset form is 1/183,000. The combined incidence of all forms of Pompe disease is estimated to be 1:40,000 2,8,9…”

Section: General/backgroundmentioning

confidence: 99%

Pompe disease diagnosis and management guideline

Kishnani

Steiner

Bali

et al. 2006

Genetics in Medicine

503

583

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“…The incidence of Pompe disease across the disease spectrum has been reported to be 1 in 40,000 (Martiniuk et al 1998). Late-onset Pompe disease (LOPD) can present anytime from after the first year of life to as late as the sixth decade, with considerable phenotypic heterogeneity.…”

Section: Introductionmentioning

confidence: 99%

Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease

et al. 2014

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Objective: To study the prevalence of lower urinary tract symptoms (LUTS) and incontinence in lateonset Pompe disease (LOPD)Methods: Adult LOPD patients seen at the Duke Pompe Clinic were prospectively recruited and asked to complete validated questionnaires on LUTS and incontinence as part of an IRB-approved study. Patient demographics as well as previous urologic history were reviewed.Results: 35 patients with LOPD were included in the study (17 males and 18 females). The median age was 51.8 (range 18-72 years of age). Of these patients, 27/35 were receiving enzyme replacement therapy (ERT) with median duration of 54 months (range 5-88 months). In the male patients, 9/17 (53%) described their stream as dribbling, weak, or intermittent, and 9/17 (53%) complained of postvoid dribbling. In addition 38% of the men were unable to stop their urination midstream. In the female patients, the most common complaint was urinary incontinence, reported in 14/18 (78%). In addition, 7/18 (39%) complained of post-void dribbling, and 47% were unable to stop their urination midstream. Bowel incontinence was reported in 45% of patients. There was a significant association between urinary symptoms and lower extremity function scores and duration of ERT (p ¼ 0.005 and p ¼ 0.04, respectively)Conclusions: This is the first study in a large cohort of LOPD patients that demonstrates LUTS and incontinence occur at a high rate. This study emphasizes the spectrum of LOPD is beyond isolated gross motor and pulmonary involvement and has a significant effect on the lower urinary tract.

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Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease

Cited by 183 publications

References 7 publications

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

Pompe disease diagnosis and management guideline

Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease

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