Rapid progressive course of later-onset Pompe disease in Chinese patients

Yang, Wen-Chi; Chien, Yin‐Hsiu; Lee, Ni‐Chung; Chiang, Shou Hao; Lin, Shuan Pei; Kuo, Yung Ting; Chen, Shun Sheng; Jong, Yuh Jyh; Hwu, Wuh‐Liang

doi:10.1016/j.ymgme.2011.06.010

Cited by 42 publications

(48 citation statements)

References 28 publications

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“…The phenotypic expression occurs when both alleles of the GAA gene harbor a pathogenic mutation and in this case as shown on genetic analysis as described earlier. Data on genetic mutations for late-onset Pompe's disease (childhood, juvenile, and adult-onset) among Chinese populations are limited, with only a handful of reports from China [5] and Taiwan [4]. Most studies analysed patients with infantile-onset Pompe's disease.…”

Section: Discussionmentioning

confidence: 99%

“…Compound mutation of c.2238G>C (p.Trp746Cys) in exon 16 was previously reported in juvenile onset Pompe's disease patients as a sequence change of unknown pathogenic significance causing diminished enzyme activity [6]. Yang et al [4] reported a group of 15 late-onset Chinese patients with symptom onset in their second decade of life with rapid disease progression. Mutation analysis in these patients revealed 2 dual mutations in the GAA gene c.(1935C>A; 1726G>A) (p.(D645E; G576S)) and c.(2238G>C; 1726G>A) (p.(W746C; G576S)) which represented 66.5% of the mutated chromosomes.…”

Section: Discussionmentioning

confidence: 99%

“…The c.-32-13T>G mutation which is associated with a milder course of disease has a broad variability in the decline of locomotive and respiratory function [10]. Both Yang et al [4] and L. Wan et al [6] have reported the association of p.W746C mutation with earlier onset of symptoms in late-onset Pompe's disease, including one homozygous patient who showed onset of symptoms at the age of 10. In our case, the patient's symptom onset was at the age of 23 when she first experienced progressive proximal muscles weakness causing her to have difficulty in climbing stairs, squatting, and getting up.…”

Section: Discussionmentioning

confidence: 99%

“…Homology analysis of the novel mutation showed that the location of the mutation at codon 148 is in a highly conserved region (Figure 3). The second mutation at c.2238G>C causes a change from nonpolar aromatic Tryptophan to polar aliphatic Cysteine at codon 746 and has been known to affect the enzymatic function of acid α -glucosidase [4] (refer to Figure 4). …”

Section: Case Reportmentioning

confidence: 99%

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Late-Onset Glycogen Storage Disease Type II (Pompe’s Disease) with a Novel Mutation: A Malaysian Experience

Hiew

Wahab

Yakob

et al. 2014

Case Reports in Neurological Medicine

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Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-1,4-glucosidase, resulting in excessive accumulation of glycogen in the lysosomes and cytoplasm of all tissues, most notably in skeletal muscles. We present a case of adult-onset Pompe's disease with progressive proximal muscles weakness over 5 years and respiratory failure on admission, requiring prolonged mechanical ventilation. Electromyography showed evidence of myopathic process with small amplitudes, polyphasic motor unit action potentials, and presence of pseudomyotonic discharges. Muscle biopsy showed glycogen-containing vacuoles in the muscle fibers consistent with glycogen storage disease. Genetic analysis revealed two compound heterozygous mutations at c.444C>G (p.Tyr148∗) in exon 2 and c.2238G>C (p.Trp746Cys) in exon 16, with the former being a novel mutation. This mutation has not been reported before, to our knowledge. The patient was treated with high protein diet during the admission and subsequently showed good clinical response to enzyme replacement therapy with survival now to the eighth year. Conclusion. In patients with late-onset adult Pompe's disease, careful evaluation and early identification of the disease and its treatment with high protein diet and enzyme replacement therapy improve muscle function and have beneficial impact on long term survival.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Case Reportmentioning

confidence: 99%

See 2 more Smart Citations

Late-Onset Glycogen Storage Disease Type II (Pompe’s Disease) with a Novel Mutation: A Malaysian Experience

Hiew

Wahab

Yakob

et al. 2014

Case Reports in Neurological Medicine

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“…Biweekly enzyme replacement therapy (ERT) with a recombinant human GAA (Myozyme) is the only available treatment. Since the inception of ERT, a new natural history of disease has begun to emerge in which patients with Pompe disease are surviving longer but 2/3 of patients on current therapy eventually require assisted ventilation for respiratory dysfunction (Yang et al, 2011). Although ERT improves patient survival and disease progression, incomplete rescue warrants further investigation into alternative treatment strategies (Kishnani et al, 2007;Byrne et al, 2011a,b).…”

Section: Glycogen Metabolism Disordersmentioning

confidence: 99%

Adeno-Associated Virus–Mediated Gene Therapy for Metabolic Myopathy

Mah

Soustek²,

Todd³

et al. 2013

Human Gene Therapy

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Metabolic myopathies are a diverse group of rare diseases in which impaired breakdown of stored energy leads to profound muscle dysfunction ranging from exercise intolerance to severe muscle wasting. Metabolic myopathies are largely caused by functional deficiency of a single gene and are generally subcategorized into three major types of metabolic disease: mitochondrial, lipid, or glycogen. Treatment varies greatly depending on the biochemical nature of the disease, and unfortunately no definitive treatments exist for metabolic myopathy. Since this group of diseases is inherited, gene therapy is being explored as an approach to personalized medical treatment. Adeno-associated virus-based vectors in particular have shown to be promising in the treatment of several forms of metabolic myopathy. This review will discuss the most recent advances in gene therapy efforts for the treatment of metabolic myopathies.

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Newborn Screening for 6 Lysosomal Storage Disorders in China

Chang,

Zhan,

Liu

et al. 2024

JAMA Netw Open

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ImportanceNewborn screening (NBS) for lysosomal storage disorders (LSDs) is becoming an increasing concern in public health. However, the birth prevalence of these disorders is rarely reported in the Chinese population, and subclinical forms of diseases among patients identified by NBS have not been evaluated.ObjectiveTo evaluate the birth prevalence of the 6 LSDs in the Shanghai population and determine subclinical forms based on clinical, biochemical, and genetic characteristics.Design, Setting, and ParticipantsThis cohort study included 50 108 newborns recruited from 41 hospitals in Shanghai between January and December 2021 who were screened for 6 LSDs using tandem mass spectrometry (MS/MS). Participants with screen-positive results underwent molecular and biochemical tests and clinical assessments. Data were analyzed from January 2021 through October 2022.ExposuresAll participants were screened for Gaucher, acid sphingomyelinase deficiency (ASMD), Krabbe, mucopolysaccharidosis type I, Fabry, and Pompe diseases using dried blood spots.Main Outcomes and MeasuresPrimary outcomes were the birth prevalence and subclinical forms of the 6 LSDs in the Shanghai population. Disease biomarker measurements, genetic testing, and clinical analysis were used to assess clinical forms of LSDs screened.ResultsAmong 50 108 newborns (26 036 male [52.0%]; mean [SD] gestational age, 38.8 [1.6] weeks), the mean (SD) birth weight was 3257 (487) g. The MS/MS-based NBS identified 353 newborns who were positive. Of these, 27 newborns (7.7%) were diagnosed with 1 of 6 LSDs screened, including 2 newborns with Gaucher, 5 newborns with ASMD, 9 newborns with Krabbe, 8 newborns with Fabry, and 3 newborns with Pompe disease. The combined birth prevalence of LSDs in Shanghai was 1 diagnosis in 1856 live births, with Krabbe disease the most common (1 diagnosis/5568 live births), followed by Fabry disease (1 diagnosis/6264 live births), and ASMD (1 diagnosis/10 022 live births). Biochemical, molecular, and clinical analysis showed that early-onset clinical forms accounted for 3 newborns with positive results (11.1%), while later-onset forms represented nearly 90% of diagnoses (24 newborns [88.9%]).Conclusions and RelevanceIn this study, the combined birth prevalence of the 6 LSDs in Shanghai was remarkably high. MS/MS-based newborn screening, combined with biochemical and molecular genetic analysis, successfully identified and characterized newborns who were screen-positive, which may assist with parental counseling and management decisions.

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Rapid progressive course of later-onset Pompe disease in Chinese patients

Cited by 42 publications

References 28 publications

Late-Onset Glycogen Storage Disease Type II (Pompe’s Disease) with a Novel Mutation: A Malaysian Experience

Late-Onset Glycogen Storage Disease Type II (Pompe’s Disease) with a Novel Mutation: A Malaysian Experience

Adeno-Associated Virus–Mediated Gene Therapy for Metabolic Myopathy

Newborn Screening for 6 Lysosomal Storage Disorders in China

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