scholarly journals A Comparison of Gait Patterns between Late-Onset Pompe Disease and Age-Matched Healthy Individuals: Does Late-Onset Pompe Disease have a Typical Gait Pattern?

2015 ◽  
Vol 2 (s1) ◽  
pp. S31-S31
Author(s):  
Edward Silk ◽  
Richard K. Jones ◽  
Christian Hendriksz ◽  
Reena Sharma ◽  
Ana Jovanovic ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Late Onset ◽  
Gait Pattern ◽  
Healthy Individuals ◽  
Gait Patterns

The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population

2020 ◽  
Vol 33 (3) ◽  
pp. 391-395 ◽  
Author(s):  
Erhan Canbay ◽  
Melisa Vural ◽  
Sema Kalkan Uçar ◽  
Ebru Demirel Sezer ◽  
Hatice Karasoy ◽  
...  
Keyword(s):  
Decision Making ◽  
Pompe Disease ◽  
High Performance ◽  
Late Onset ◽  
Turkish Population ◽  
Reference Intervals ◽  
Healthy Controls ◽  
Age Group ◽  
Healthy Individuals ◽  
First Year Of Life

AbstractBackgroundRecently, urinary excretion of the tetrasaccharide 6-α-D-glucopyranosyl-maltotriose (Glc4) has been proposed as a marker for the diagnosis and monitoring of Pompe disease (PD). We aimed to determine the reference intervals and reliable decision-making levels of urine tetrasaccharide concentrations for the diagnosis of infantile- and late-onset Pompe patients in the Turkish population.MethodsIn this study, nine patients with PD (five of them with late-onset PD [LOPD]) and 226 healthy individuals (aged 0–64 years) were included. Urine Glc4 concentrations were determined using the ultra-high-performance liquid chromatography (UHPLC) tandem mass spectrometry (MS/MS) method.ResultsOur data showed that the urine tetrasaccharide levels decreased with age in healthy individuals (p < 0.001, r = −0.256). It was higher especially during the first year of life compared to that in the elder subjects. The tetrasaccharide level of Pompe patients was higher compared to that of healthy controls of the same age: 99 ± 68 mmol/mol creatinine for infantile onset vs. 4.0 ± 3.0 mmol/mol creatinine for healthy controls of the same age group and 12.1 ± 17.4 mmol/mol creatinine for late onset vs. 1.7±1.2 mmol/mol creatinine for healthy controls of the same age group.ConclusionsThe results of this study showed that the reference intervals of tetrasaccharide in urine changed over time; therefore, it is critically important to define age-based decision levels for the diagnosis of LOPD.

Postural and gait patterns assessed by 3D movement analysis in a late onset Pompe disease sibship

2017 ◽  
Vol 27 ◽  
pp. S162-S163
Author(s):  
P. De Blasiis ◽  
D. Mazzoli ◽  
O. Farina ◽  
L. Lombardi ◽  
M. Melone ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Late Onset ◽  
Movement Analysis ◽  
Gait Patterns

Late onset Pompe Disease in India – Beyond the Caucasian phenotype

2021 ◽  
Author(s):  
Ratna Dua Puri ◽  
Nitika Setia ◽  
Vinu N ◽  
Sujatha Jagadeesh ◽  
Sheela Nampoothiri ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Late Onset

NEO1/NEO-EXT studies: Safety and exploratory efficacy of repeat avalglucosidase alfa dosing after up to 6 years in participants with late-onset pompe disease (LOPD)

2021 ◽  
Vol 132 (2) ◽  
pp. S34
Author(s):  
Mazen M. Dimachkie ◽  
Richard J. Barohn ◽  
Barry Byrne ◽  
Ozlem Goker-Alpan ◽  
Priya S. Kishnani ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Late Onset

scholarly journals Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

2021 ◽  
Vol 22 (7) ◽  
pp. 3625
Author(s):  
Filomena Napolitano ◽  
Giorgia Bruno ◽  
Chiara Terracciano ◽  
Giuseppina Franzese ◽  
Nicole Piera Palomba ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Rare Variants ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Respiratory Muscles ◽  
Autosomal Recessive Disorder ◽  
Compound Heterozygous ◽  
Enzyme Replacement ◽  
Whole Exome ◽  
Clinical Pictures

Pompe disease is an autosomal recessive disorder caused by a deficiency in the enzyme acid alpha-glucosidase. The late-onset form of Pompe disease (LOPD) is characterized by a slowly progressing proximal muscle weakness, often involving respiratory muscles. In LOPD, the levels of GAA enzyme activity and the severity of the clinical pictures may be highly variable among individuals, even in those who harbour the same combination of GAA mutations. The result is an unpredictable genotype–phenotype correlation. The purpose of this study was to identify the genetic factors responsible for the progression, severity and drug response in LOPD. We report here on a detailed clinical, morphological and genetic study, including a whole exome sequencing (WES) analysis of 11 adult LOPD siblings belonging to two Italian families carrying compound heterozygous GAA mutations. We disclosed a heterogeneous pattern of myopathic impairment, associated, among others, with cardiac defects, intracranial vessels abnormality, osteoporosis, vitamin D deficiency, obesity and adverse response to enzyme replacement therapy (ERT). We identified deleterious variants in the genes involved in autophagy, immunity and bone metabolism, which contributed to the severity of the clinical symptoms observed in the LOPD patients. This study emphasizes the multisystem nature of LOPD and highlights the polygenic nature of the complex phenotype disclosed in these patients.

Expanding the phenotype of late-onset pompe disease: Tongue weakness: A new clinical observation

2011 ◽  
Vol 44 (6) ◽  
pp. 897-901 ◽  
Author(s):  
Alberto Dubrovsky ◽  
Jose Corderi ◽  
Min Lin ◽  
Priya S. Kishnani ◽  
Harrison N. Jones
Keyword(s):  
Pompe Disease ◽  
Clinical Observation ◽  
Late Onset

scholarly journals Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease

2017 ◽  
Vol 63 (7) ◽  
pp. 1271-1277 ◽  
Author(s):  
Hsuan-Chieh Liao ◽  
Min-Ju Chan ◽  
Chia-Feng Yang ◽  
Chuan-Chi Chiang ◽  
Dau-Ming Niu ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Newborn Screening ◽  
Pompe Disease ◽  
Late Onset ◽  
Asian Population ◽  
Dried Blood Spots ◽  
Fluorimetric Assay ◽  
Analytical Range ◽  
Patient Referrals

Abstract BACKGROUND Deficiency of the lysosomal enzyme acid α-glucosidase (GAA) causes Pompe disease. Newborn screening for Pompe disease is ongoing, and improved methods for distinguishing affected patients from those with pseudodeficiency, especially in the Asian population, would substantially reduce the number of patient referrals for clinical follow-up. METHODS We measured the enzymatic activity of GAA in dried blood spots on newborn screening cards (DBS) using a tandem mass spectrometry (MS/MS) assay. The assay displayed a relatively large analytical range compared to the fluorimetric assay with 4-methylumbelliferyl-α-glucoside. DBS from newborns confirmed to have infantile-onset Pompe disease (IOPD, n = 11) or late-onset Pompe disease (LOPD) (n = 12) and those from patients bearing pseudodeficiency alleles with or without Pompe mutations, or Pompe disease carriers (n = 230) were studied. RESULTS With use of the MS/MS GAA assay in DBS, 96% of the pseudodeficiency newborns and all of the Pompe disease carriers were well separated from the IOPD and LOPD newborns. The fluorimetric assay separated &lt;10% of the pseudodeficiencies from the IOPD/LOPD group. CONCLUSIONS The relatively large analytical range MS/MS GAA assay but not the fluorimetric assay in DBS provides a robust approach to reduce the number of referrals and should dramatically facilitate newborn screening of Pompe disease.

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