Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Winchester, Bryan; Bali, Deeksha; Bodamer, Olaf A.; Caillaud, Catherine; Christensen, Ernst; Cooper, Alan; Cupler, Edward; Deschauer, Marcus; Fumić, Ksenija; Jackson, Marie; Kishnani, Priya S.; Lacerda, Lúcia; Ledvinová, Jana; Ługowska, Agnieszka; Lukács, Zoltán; Maire, I.; Mandel, Hanna; Mengel, Eugen; Müller‐Felber, Wolfgang; Piraud, Monique; Reuser, A. J. J.; Rupar, Tony; Sinigerska, I.; Szlago, Marina; Verheijen, Frans W.; Diggelen, O. P. van; Wuyts, Birgitte; Zakharova, Ekaterina; Keutzer, Joan

doi:10.1016/j.ymgme.2007.09.006

Cited by 131 publications

(143 citation statements)

References 33 publications

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“…Dry blood spot on filter paper as a screening test for PD The introduction of the dry blood spot (DBS) test on filter paper into clinical practice provided a simple and reliable laboratory method for screening patients with suspicion of PD 26,27 (Table 4). Whenever the suspicion of PD persists, the test should be repeated, and additional diagnostic methods should be employed ( Table 4).…”

Section: Diagnostic Laboratory Methods For Juvenile and Adult Pompe Dmentioning

confidence: 99%

“…Whenever the suspicion of PD persists, the test should be repeated, and additional diagnostic methods should be employed ( Table 4). As all screening tests, suspected cases require a confirmation by at least one diagnostic test 26,27 (B, C). DBS pre-analytical problems may result in false-negative and/or false positive screening results…”

Section: Diagnostic Laboratory Methods For Juvenile and Adult Pompe Dmentioning

confidence: 99%

“…Upon a positive DBS screening test for PD, additional diagnostic evidence should be obtained by measuring the amount of GAA activity in leukocytes or fibroblasts 26 and/or by conducting GAA genotyping in search of two pathogenic GAA mutations 2 (Table 4). Whenever there is any doubt in the DBS test and clinical suspicion persists, patients with symptoms suggestive of PD should have their GAA activity measured once again by the same laboratory that performed the first analysis.…”

Section: Laboratory Diagnosis For Childhood and Adult Pdmentioning

confidence: 99%

“…Whenever there is any doubt in the DBS test and clinical suspicion persists, patients with symptoms suggestive of PD should have their GAA activity measured once again by the same laboratory that performed the first analysis. If the patient is negative for the GAA enzyme assay in leukocytes and the possibility of PD persists, diagnosis should proceed with at least one of the following three options: a) DNA analysis searching for pathogenic mutations in the GAA gene 2 ; or b) Muscle biopsy evaluation, to assess the presence of abnormal accumulation of glycogen with vacuolar myopathy 5,29 (B), although not specific for PD; or c) Fibroblast culture from skin biopsy to test for GAA activity 26 .…”

Section: Laboratory Diagnosis For Childhood and Adult Pdmentioning

confidence: 99%

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Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease

Llerena

Nascimento

Oliveira

et al. 2015

Arq. Neuro-Psiquiatr.

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Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L’Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.

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Section: Diagnostic Laboratory Methods For Juvenile and Adult Pompe Dmentioning

confidence: 99%

Section: Diagnostic Laboratory Methods For Juvenile and Adult Pompe Dmentioning

confidence: 99%

Section: Laboratory Diagnosis For Childhood and Adult Pdmentioning

confidence: 99%

Section: Laboratory Diagnosis For Childhood and Adult Pdmentioning

confidence: 99%

See 2 more Smart Citations

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease

Llerena

Nascimento

Oliveira

et al. 2015

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

show abstract

“…Золотим стандартом лабораторної діагностики при ХП вважають визначення активності ферменту GAA у лейкоцитах або культурі фібробластів шкіри пацієнта [10]. Рівень активності ферменту GAA у фібробластах шкіри пацієнтів при ХППП становить 1-40 % норми [9].…”

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