3.Research progress of nervous system damage in Pompe disease.
Wen-Chao ZHANG ; Ying-Ying MAO ; Qian CHEN
Chinese Journal of Contemporary Pediatrics 2023;25(4):420-424
Pompe disease, also known as glycogen storage disease type Ⅱ, is a rare autosomal recessive disease. With the application of enzyme replacement therapy, more and more patients with Pompe disease can survive to adulthood, and nervous system-related clinical manifestations gradually emerge. Nervous system involvement seriously affects the quality of life of patients with Pompe disease, and a systematic understanding of the clinical manifestations, imaging features and pathological changes of nervous system injury in Pompe disease is of great significance for the early identification and intervention of Pompe disease. This article reviews the research progress of neurological damage in Pompe disease.
Humans
;
Glycogen Storage Disease Type II/drug therapy*
;
alpha-Glucosidases
;
Quality of Life
;
Enzyme Replacement Therapy
4.Evaluation of the Urinary Glucose Tetrasaccharide Assay Using Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry for Diagnosis of Pompe Disease.
Youngwon NAM ; Kyunghoon LEE ; Sun Hee JUN ; Kyung Un PARK ; Sang Hoon SONG ; Hyung Doo PARK ; Junghan SONG
Laboratory Medicine Online 2015;5(4):211-214
We evaluated the urinary glucose tetrasaccharide (Glc4) assay using ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). The calibration curve was linear over a range of 5-500 micromol/L. Performance parameters such as intra- and inter-day imprecision CVs were 6.52-14.6% and 11.5-13.2%, respectively. The mean concentrations of urinary Glc4 in 27 normal controls and 3 pseudodeficiency patients were 1.5 and 12.1 mmol/mol creatinine, respectively. Urinary Glc4 concentration in a patient with Pompe disease was 171.3 mmol/mol creatinine, which decreased to 130.9 mmol/mol following enzyme replacement therapy. Based on our results, we suggest that the urinary Glc4 assay using UPLC-MS/MS can be a reliable diagnostic tool for identification of patients with Pompe disease.
Calibration
;
Creatinine
;
Diagnosis*
;
Enzyme Replacement Therapy
;
Glucose*
;
Glycogen Storage Disease Type II*
;
Humans
;
Mass Spectrometry*
5.Clinical Characteristics of Childhood Pompe Disease.
Anna CHO ; Go Un JEONG ; Byung Chan LIM ; Jee Yoon PARK ; Jin Hwa MOON ; Jong Hee CHAE ; Yong Seung HWANG ; Ki Joong KIM ; Hee HWANG
Journal of the Korean Child Neurology Society 2007;15(1):83-89
PURPOSE: Pompe disease is one of the glycogen storage diseases caused by a deficiency of acid alpha-glycosidase. This enzyme defect results in lysosomal glycogen accumulation in many tissues and shows a various spectrum of clinical features from early infantile hypotonia to mild weakness. For the investigation of the clinical characteristics of Pompe disease, we reviewed 6 cases of childhood Pompe disease diagnosed by muscle biopsy and acid alpha-glycosidase assay. METHODS: We reviewed the medical records of 6 childhood Pompe disease patients in Seoul National University Children's Hospital, retrospectively from January 2001 to October 2006. RESULTS: The age of the symptom onset was 1 month to 11 years(mean 2.2 years) and the diagnosis was made at the age of 8 months to 14 years(mean 5.3 years). The patients showed delayed motor development, motor weakness, hypotonia, cardiomegaly, hypertrophic cardiomyopathy, hepatomegaly, recurrent pulmonary infections but the severity was very diverse. Liver transaminase and CK levels were elevated in all of the patients. Their muscle biopsy showed the characteristic accumulation of purple colored glycogen granules and the degeneration of myofibers. CONCLUSION: Childhood Pompe disease had various clinical features and severities depending on the age of onset, organ involvement and the rate of progression. Enzyme replacement therapy may modify the disease courses, so we need to diagnose earlier for the treatment at an optimal time.
Age of Onset
;
Biopsy
;
Cardiomegaly
;
Cardiomyopathy, Hypertrophic
;
Diagnosis
;
Early Diagnosis
;
Enzyme Replacement Therapy
;
Glycogen
;
Glycogen Storage Disease
;
Glycogen Storage Disease Type II*
;
Hepatomegaly
;
Humans
;
Liver
;
Medical Records
;
Muscle Hypotonia
;
Retrospective Studies
;
Seoul
6.General Anesthesia in a Patient with Infantile Pompe's Disease : A case report.
Young Jae LEE ; Woo Suk CHUNG ; Jung Hyun LEE ; Soo Chang SON
Anesthesia and Pain Medicine 2006;1(2):124-128
Pompe's disease (type II glycogen storage disease) is an autosomalrecessive disorder caused by a deficiency of lysosomal acid alpha- glucosidase (GAA) leading to the accumulation of glycogen in the lysosomes primarily in cardiac and skeletal muscle. Recently a promising enzyme replacement therapy has resulted in improved clinical outcomes and a resurgence of elective anesthesia for these patients. The anesthetic management of infant with Pompe's disease presents a variety of challenges. Therefore, understanding the unique cardiac and respiratory physiology is essential to providing safe general anesthesia. We report a case of patient with infantile-onset Pompe's disease who underwent a tracheostomy for a ventilator care.
Anesthesia
;
Anesthesia, General*
;
Cardiomyopathies
;
Enzyme Replacement Therapy
;
Glucosidases
;
Glycogen
;
Glycogen Storage Disease Type II*
;
Humans
;
Infant
;
Lysosomes
;
Muscle, Skeletal
;
Respiratory Physiological Phenomena
;
Tracheostomy
;
Ventilators, Mechanical
7.A case of juvenile form Pompe's disease manifested as chronic alveolar hypoventilation.
Dong Gyu KIM ; Kisuck JUNG ; Myung Koo LEE ; In Gyu HYUN ; Hwa Jung LIM ; Hong Go SONG ; Je Geun CHI
Journal of Korean Medical Science 1993;8(3):221-224
We describe a case of the juvenile form of Pompe's disease that presented as primary alveolar hypoventilation due to respiratory muscle involvement. This 17-year-old girl had been asymptomatic until this admission, although she had a delayed puberty. Arterial blood gas analysis, pulmonary function test as well as physical findings were compatible with chronic alveolar hypoventilation syndrome. Since she had lower extremity muscle weakness and pseudomyotonic discharge on electromyography a muscle biopsy was done, which revealed glycogen storage disease. The patient was managed successfully with nasal intermittent positive pressure ventilation.
Adolescent
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Chronic Disease
;
Female
;
Glycogen Storage Disease Type II/*complications/pathology
;
Humans
;
Hypoventilation/*etiology/therapy
;
Intermittent Positive-Pressure Ventilation
;
Muscles/pathology
;
Pulmonary Alveoli
8.Research advances in the diagnosis and treatment of Pompe disease.
Chinese Journal of Contemporary Pediatrics 2018;20(7):588-593
Pompe disease, also called type II glycogen storage disease, is a rare autosomal recessive inherited disease caused by the storage of glycogen in lysosome due to acid α-glucosidase (GAA) deficiency, with the most severe conditions in the skeletal muscle, the myocardium, and the smooth muscle. Patients may have the manifestations of dyspnea and dyskinesia, with or without hypertrophic cardiomyopathy. GAA gene mutation has ethnic and regional differences, and new mutation sites are found with the advances in research. Gene analysis is the gold standard for the diagnosis of Pompe disease. Conventional methods, such as skin and muscle biopsies and dried blood spot test, have certain limitations for the diagnosis of this disease. In recent years, prenatal diagnosis and newborn screening play an important role in early diagnosis of this disease. Enzyme replacement therapy (ERT) has a satisfactory effect in the treatment of this disease, but it may lead to immune intolerance. New targeted gene therapy and modified ERT will be put into practice in the future. This article reviews the research advances in the diagnosis and treatment of Pompe disease.
Animals
;
Enzyme Replacement Therapy
;
Glycogen Storage Disease Type II
;
diagnosis
;
enzymology
;
genetics
;
therapy
;
Humans
;
Targeted Gene Repair
;
alpha-Glucosidases
;
genetics
;
metabolism
9.Clinical improvement in a case of atypical infantile onset Pompe disease with enzyme replacement therapy.
You Hoon JEON ; Baik Lin EUN ; Chang Sung SON ; Dong Hwan LEE
Korean Journal of Pediatrics 2007;50(2):213-217
Pompe disease is a genetic disorder caused by a deficiency of acid alpha-glucosidase (GAA). Infantile onset Pompe disease is uniformly lethal. Affected infants generally present in the first few months of life with hypotonia, generalized muscle weakness, and a hypertrophic cardiomyopathy, which is rapidly followed by death, usually by the age of one. The late-onset form is characterized less severe symptoms and prognosis. Therapy for Pompe disease is intended to directly address the underlying metabolic defect via intravenous infusions of recombinant human GAA to replace the missing enzyme. We report a case of atypical infantile-onset Pompe disease that presented symptoms in infancy but had less severe clinical manifestations and improved after GAA enzyme replacement (Myozyme(R), Genzyme Co., MA, USA) therapy. It is very important that pediatricians become aware of signs and symptoms of Pompe disease, such as a nasal voice or a waddling gait at an early stage so that these patients can benefit from appropriate GAA replacement therapy as soon as possible.
alpha-Glucosidases
;
Cardiomyopathy, Hypertrophic
;
Enzyme Replacement Therapy*
;
Gait
;
Glycogen Storage Disease Type II*
;
Humans
;
Infant
;
Infusions, Intravenous
;
Muscle Hypotonia
;
Muscle Weakness
;
Prognosis
;
Voice
10.Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center
Min Sun KIM ; Ari SONG ; Minji IM ; June HUH ; I Seok KANG ; Jinyoung SONG ; Aram YANG ; Jinsup KIM ; Eun Kyung KWON ; Eu Jin CHOI ; Sun Ju HAN ; Hyung Doo PARK ; Sung Yoon CHO ; Dong Kyu JIN
Korean Journal of Pediatrics 2019;62(6):224-234
PURPOSE: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) at a tertiary medical center. METHODS: The medical records of 5 Korean patients (2 male, 3 female patients) diagnosed with PD between 2002 and 2013 at Samsung Medical Center in Seoul, Republic of Korea were retrospectively reviewed for data, including clinical and genetic characteristics at diagnosis and clinical course after ERT. RESULTS: Common initial symptoms included hypotonia, cyanosis, and tachycardia in patients with IOPD and limb girdle weakness in patients with LOPD. Electrocardiography at diagnosis revealed hypertrophic cardiomyopathy in all patients with IOPD who showed a stable disease course during a median follow-up period of 10 years. Patients with LOPD showed improved hepatomegaly and liver transaminase level after ERT. CONCLUSION: As ERT is effective for treatment of PD, early identification of this disease is very important. Thus, patients with IOPD should be considered candidates for clinical trials of new drugs in the future.
alpha-Glucosidases
;
Cardiomyopathy, Hypertrophic
;
Child
;
Cyanosis
;
Diagnosis
;
Electrocardiography
;
Enzyme Replacement Therapy
;
Extremities
;
Female
;
Follow-Up Studies
;
Genotype
;
Glycogen Storage Disease Type II
;
Hepatomegaly
;
Humans
;
Liver
;
Male
;
Medical Records
;
Muscle Hypotonia
;
Republic of Korea
;
Retrospective Studies
;
Seoul
;
Tachycardia