scholarly journals Rare Diseases in Neurology — Caring for a Patient with Pompe’s Disease

2019 ◽  
Vol 8 (4) ◽  
pp. 170-176
Author(s):  
Anna Roszmann ◽  
◽  
Mikołaj Hamerski ◽  
Marcelina Skrzypek-Czerko ◽  
◽  
...  
Keyword(s):  
Clinical Picture ◽  
Pompe Disease ◽  
Age Of Onset ◽  
Late Onset ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Disease Case ◽  
Nurses Role

Introduction. Pompe disease, a severe metabolic myopathy, is caused by mutations in the gene coding for acid alphaglucosidase (GAA), what lead to intralysosomal accumulation of glycogen in all tissues, most notably in skeletal muscles. Pompe disease was the first documented lysosomal storage disease, nowadays we know around 60 similar disorders. Aim. Presentation of the clinical picture of a man with Pompe’s disease. Case Report. A man at the age of 40, diagnosis of the Pompe’s disease was made only at the age of 31. The first symptoms, indicating the patient’s development of the disease, were already present in the early school age. At first, the clinical picture presented by the patient led to the diagnosis of muscular dystrophy. Discussion. Pompe disease presents as a continuum of clinical phenotypes that differ by age of onset, severity, and organ involvement. Pompe disease affects people of all ages with varying degrees of severity. Two main broad types are recognized based on the onset of symptoms and the presence or absence of cardiomyopathy. Infantile onset Pompe disease (IOPD) as one, and the most severe for mod the disease. Other and less destructive is late-onset Pompe disease (LOPD) manifests any time after 12 months of age. The disease can be successfully treated by enzyme replacement therapy with alglucosidase alfa that was approved for human use in 2006. Conclusions. In big importance is nurses role as educators and support for the patients during their hospitalizations for medicine infusions twice a month. It time when the knowledge and significance of proper life style can be discussed and implemented to empower the patients. (JNNN 2019;8(4):170–176) Key Words: Pompe’s disease, treatment, diagnosis, care

scholarly journals Pompe disease, a storage cardiomyopathy

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Tiziana Felice
Keyword(s):  
Pompe Disease ◽  
Age Of Onset ◽  
Late Onset ◽  
Treatment Options ◽  
Premature Death ◽  
Glycogen Storage Disease Type ◽  
Lysosomal Storage ◽  
Respiratory Compromise ◽  
Enzyme Replacement ◽  
Geographical Regions

Pompe disease also known as glycogen storage disease type II, is a rare and progressive lysosomal storage disorder caused by the deficiency of the enzyme acid α-glucosidase. This results in the accumulation of glycogen in various tissues particularly involving the heart, skeletal muscle and liver. It is inherited in an autosomal recessive manner due to mutations in the GAA gene. There are several known pathogenic variants, some of which are particularly common in certain geographical regions. Pompe disease is a single disease exhibiting a heterogeneous clinical spectrum depending on the extent of enzyme deficiency, the age of onset, the progression of the disease and the degree of organ involvement. It may lead to muscle weakness, hypotonia, respiratory compromise and premature death. Pompe disease is classically divided into two forms, infantile and late-onset disease. The infantile form is further subdivided into classical and non-classical subtypes. Cardiac involvement is particularly seen in the infantile phenotype of the condition, presenting as severe cardiomyopathy associated with conduction abnormalities. Enzyme replacement therapy with recombinant human acid α-glucosidase is the approved treatment option for patients with this metabolic condition. Further research is currently being done to explore more treatment options. One must keep in mind other metabolic and mitochondrial conditions, which may give a similar cardiac and neurological clinical picture.

scholarly journals Clinical Analysis of Algerian Patients with Pompe Disease

2017 ◽  
Vol 2017 ◽  
pp. 1-7
Author(s):  
Y. Sifi ◽  
M. Medjroubi ◽  
R. Froissart ◽  
N. Taghane ◽  
K. Sifi ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Pompe Disease ◽  
Clinical Presentation ◽  
Age Of Onset ◽  
Late Onset ◽  
Disease Onset ◽  
Dried Blood Spots ◽  
Clinical Analysis ◽  
Pompe’S Disease ◽  
Pompe's Disease

Pompe’s disease is a metabolic myopathy caused by a deficiency of acid alpha-glucosidase (GAA), also called acid maltase, an enzyme that degrades lysosomal glycogen. The clinical presentation of Pompe’s disease is variable with respect to the age of onset and rate of disease progression. Patients with onset of symptoms in early infancy (infantile-onset Pompe disease (IOPD)) typically exhibit rapidly progressive hypertrophic cardiomyopathy and marked muscle weakness. Most of them die within the first year of life from cardiac and/or respiratory failure. In the majority of cases of Pompe’s disease, onset of symptoms occurs after infancy, ranging widely from the first to sixth decade of life (late-onset Pompe’s disease or LOPD). Progression of the disease is relentless and patients eventually progress to loss of ambulation and death due to respiratory failure. The objective of this study was to characterize the clinical presentation of 6 patients (3 with EOPD and the other 3 with LOPD) of 5 families from the East of Algeria. All our patients were diagnosed as having Pompe’s disease based on biochemical confirmations of GAA deficiency by dried blood spots (DBS) and GAA gene mutations were analyzed in all patients who consented (n=4). Our results are similar to other ethnic groups.

scholarly journals Clinical manifestation, disease course and response to enzyme replacement therapy in Hungarian patients with Pompe’s disease

2011 ◽  
Vol 152 (39) ◽  
pp. 1569-1575
Author(s):  
Benjamin Bereznai ◽  
Anita Trauninger ◽  
Ilona György ◽  
Katalin Szakszon ◽  
Zsuzsanna Almássy ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Age Of Onset ◽  
Late Onset ◽  
Phenotypic Variability ◽  
Motor Deficits ◽  
Enzyme Replacement ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Long Term Follow Up

Pompe’s disease is an autosomal recessive disease caused by deficiency of acid-alpha-glucosidase. Aims and Methods: Authors analyzed the phenotype of 11 Hungarian patients with Pompe’s disease and evaluated clinical parameters and response to enzyme replacement therapy during a long-term follow-up in 8 patients. Results: One patient with atypical infantile form presented with cardiomyopathy and a very slow progression of motor deficits; after 2 years of enzyme replacement therapy no disability was present at the age 6 years. Another patient was asymptomatic at the age of 2.5 years. The adult onset form was characterized by slight to prominent limb-girdle myopathy with an age of onset between 20 and 50 years. In 3 of such cases respiratory insufficiency was also present. Conclusions: Hungarian patients with Pompe’s disease presented with a wide phenotypic variability ranging from atypical early childhood form with slowly progressive course to late-onset limb-girdle myopathy with variable courses. Enzyme replacement therapy resulted in significant improvement in motor and respiratory functions in most of the patients. Orv. Hetil., 2011, 152, 1569–1575.

scholarly journals Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease

2010 ◽  
Vol 68 (2) ◽  
pp. 194-197 ◽  
Author(s):  
Anderson Kuntz Grzesiuk ◽  
Sueli Mieko Oba Shinjo ◽  
Roseli da Silva ◽  
Marcela Machado ◽  
Marcial Francis Galera ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Age Of Onset ◽  
Late Onset ◽  
Activity Measurement ◽  
Respiratory Compromise ◽  
Enzyme Replacement ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
C 32 ◽  
Gaa Gene

Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid α-glucosidase (GAA) enzyme deficiency. Childhood and late-onset forms are described, differing by the age of onset and symptoms. In this study were analyzed affected siblings with Pompe's disease (PD) and their distinct clinical and pathological presentations. METHOD: Diagnosis was performed by the clinical presentation of limb-girdle dystrophies and respiratory compromise. Confirmatory diagnoses were conducted by muscle biopsy, GAA activity measurement and by GAA gene genotyping. RESULTS: The findings suggested muscular involvement due to GAA deficiency. GAA genotyping showed they are homozygous for the c.-32-3C>A mutation. CONCLUSION: Herein we reported a family where three out of five siblings were diagnosed with late-onset PD, although it is a rare metabolic disease inherited in an autossomal recessive manner. We emphasize the importance of including this presentation within the differential diagnoses of the limb-girdle dystrophies once enzyme replacement therapy is available.

Enzyme replacement therapy in late-onset Pompe's disease: A three-year follow-up

2004 ◽  
Vol 55 (4) ◽  
pp. 495-502 ◽  
Author(s):  
L�on P. F. Winkel ◽  
Johanna M. P. Van den Hout ◽  
Joep H. J. Kamphoven ◽  
Janus A. M. Disseldorp ◽  
Maaike Remmerswaal ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Late Onset ◽  
Enzyme Replacement ◽  
Pompe’S Disease ◽  
Pompe's Disease

scholarly journals A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations

2020 ◽  
Vol 6 (1) ◽  
pp. 22
Author(s):  
Raymond Y. Wang
Keyword(s):  
Newborn Screening ◽  
Respiratory Insufficiency ◽  
Pompe Disease ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Lysosomal Storage ◽  
Parental Experience ◽  
Screening Programs ◽  
Disease Case ◽  
Newborn Screen

Pompe disease is an inherited lysosomal storage disorder caused by acid alpha-glucosidase (GAA) enzyme deficiency, resulting in muscle and neuron intralysosomal glycogen storage. Clinical symptoms vary from the severe, infantile-onset form with hypertrophic cardiomyopathy, gross motor delay, and early death from respiratory insufficiency; to a late-onset form with variable onset of proximal muscle weakness and progressive respiratory insufficiency. Newborn screening programs have been instituted to presymptomatically identify neonates with infantile-onset Pompe disease for early initiation of treatment. However, infants with late-onset Pompe disease are also identified, leaving families and physicians in a state of uncertainty regarding prognosis, necessity, and timing of treatment initiation. This report presents a 31 5/7 weeks’ gestational age premature infant flagged positive for Pompe disease with low dried blood spot GAA activity; sequencing identified biparental c.-32-13T>G/c.29delA GAA variants predicting late-onset Pompe disease. The infant’s parents’ initial reactions to the positive newborn screen, subsequent experience during confirmatory testing, and post-confirmation reflections are also reported. While uncertainties regarding natural history and prognosis of presymptomatically-identified late-onset Pompe disease infants will be elucidated with additional experience, suggestions for education of first-line providers are provided to accurately communicate results and compassionately counsel families regarding anxiety-provoking positive newborn screen results.

112 Blood spot testing for late onset pompe disease

2018 ◽  
Vol 89 (6) ◽  
pp. A44.2-A44
Author(s):  
Julia Dobbins ◽  
Tim Pyragius ◽  
Kristian Brion ◽  
Sharon Chin ◽  
Melissa Gurner ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Pompe Disease ◽  
Age Of Onset ◽  
Late Onset ◽  
Dried Blood Spot ◽  
Molecular Testing ◽  
Enzyme Replacement ◽  
Number Of Patients ◽  
Diagnosis Rate ◽  
Blood Spot

IntroductionPompe disease is classified by age of onset and presentation. Late-onset Pompe disease (LOPD) generally presents with progressive limb-girdle and respiratory muscle weakness. Diagnosis is confirmed following dried blood spot (DBS) enzyme assay by a second method, either mutation or glucose tetra-saccharide analysis.MethodsFrom 2000 to 2016, acid α –glucosidase (GAA) activity in DBS was measured using the immuno-capture assay of . Umapathysivam et al. (2001) From 2016 testing used the multiplex tandem mass spectrometry method (6-PLEX LC-MSMS, Perkin Elmer), measuring six lysosomal storage disease enzymes from one DBS. Glucose tetra-saccharides were measured by mass spectrometry and mutation analysis of the GAA gene was performed using either Sanger or Next Generation Sequencing, the latter confirmed by sequencing.ResultsBetween 2000 and 2016, approximately 1500 samples were screened for Pompe disease with 77 positives, a diagnosis rate of 5.1%. Of these, 33 were infantile Pompe disease, with 44 LOPD. Since May 2016, a further 850 patients have been screened for Pompe disease using the MSMS method and of these, 28 patients have screened as positive, with 19 confirmed as having Pompe disease, either by molecular testing or urine tetra-saccharide measurement, a diagnosis rate of 2.2%. Of these 19 patients, 17 are LOPD, with only two infants being diagnosed in this time. Seven adults are still to be confirmed by a second test.ConclusionThe number of patients presenting for testing follows the recent Australian government funding for enzyme replacement therapy for adults with LOPD. The ease of submitting a dried blood spot sample for testing has contributed to an increase in test requests, although this may also reflect an increased recognition of this condition. These patients may have already been diagnosed clinically, but in the absence of a treatment, there was little benefit in a formal diagnosis.

scholarly journals Delivery and postpartum management of a patient with Pompe disease: Case report and review of the literature

2017 ◽  
Vol 10 (3) ◽  
pp. 150-151 ◽  
Author(s):  
Kazibe Koyuncu ◽  
Batuhan Turgay ◽  
Rusen Aytac ◽  
Feride Soylemez
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Autosomal Recessive ◽  
Late Onset ◽  
Autosomal Recessive Disorder ◽  
Enzyme Replacement ◽  
Disease Case ◽  
Alpha Glucosidase ◽  
Gaa Gene

Pompe disease is an autosomal-recessive disorder caused by acid alpha-glucosidase deficiency due to mutations in the GAA gene. There are two forms of the disease: infantile-onset Pompe disease and late-onset Pompe disease. The worldwide incidence of both forms of the disease is commonly reported to be 1 in 40,000. Adult patients are affected by limb-girdle muscular weakness and respiratory insufficiency. Enzyme replacement therapy with alglucosidase-alpha is available since 2006. There is little knowledge about pregnant woman with Pompe disease. These women should be considered as high-risk pregnant women. Here, we aim to present Cesarean delivery and postpartum management of a case with an interrupted enzyme replacement therapy during pregnancy.

P173: Seven-year follow up of two sisters with late onset Pompe’s disease: effects and limitation of enzyme replacement therapy

2014 ◽  
Vol 125 ◽  
pp. S93-S94 ◽  
Author(s):  
M. Kawamoto ◽  
J. Ishii ◽  
M. Togo ◽  
K. Higashida ◽  
Y. Tamaki ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Late Onset ◽  
Enzyme Replacement ◽  
Pompe’S Disease ◽  
Pompe's Disease
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