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

Wang, Raymond

doi:10.3390/ijns6010022

Cited by 8 publications

(15 citation statements)

References 21 publications

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“…Pompe disease is a metabolic myopathy caused by mutations in the gene for GAA, the enzyme that degrades glycogen into glucose within the acidic milieu of the lysosome [ 4 ]. A deficiency of this enzyme causes a lysosomal buildup of glycogen in several tissues [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

Co-occurrence of Glycogen Storage Disease Type 2 and Congenital Myasthenic Syndrome Type 5 in a Pediatric Patient: A Case Report

Al-Sharif¹,

Alamer²,

Taher³

et al. 2022

Cureus

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Glycogen storage disease type 2 (also known as Pompe disease) is a metabolic disorder characterized by an accumulation of glycogen within lysosomes. Pathophysiologically, this condition is caused by an autosomal recessive deficiency of the lysosomal acid alpha-glucosidase enzyme, resulting in defects in lysosomal metabolism. Glycogen accumulation causes advanced muscle weakness (myopathy) throughout the body, including the heart, skeletal muscles, liver, and the neurological system. Currently, there is no definitive treatment for Pompe disease. However, recent studies have indicated that enzyme replacement therapy (ERT) can be effective. Myasthenia gravis (MG) is an autoimmune illness that affects the postsynaptic acetylcholine receptors and causes fatigue that can be eased by rest. MG is frequently accompanied by a thymoma. Dyspnea and/or bulbar symptoms can indicate an imminent crisis requiring immediate intervention. Here, we present a rare case of a four-year-old female patient who initially presented at the age of one month with the infantile form of Pompe disease and congenital myasthenia syndrome type 5. The patient presented with bradycardia, poor suckling, respiratory distress, and respiratory failure requiring assisted ventilation, subglottic stenosis, and tachypnea. Whole exome sequencing was used for definitive diagnosis. ERT (Myozyme) was administered with good results. We propose that early identification and management of Pompe disease with Myozyme can improve patients’ condition and ultimately increase the possibility of survival.

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Section: Discussionmentioning

confidence: 99%

Co-occurrence of Glycogen Storage Disease Type 2 and Congenital Myasthenic Syndrome Type 5 in a Pediatric Patient: A Case Report

Al-Sharif¹,

Alamer²,

Taher³

et al. 2022

Cureus

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“…Patients with LOPD have pathogenic GAA variants which do not abolish GAA activity completely. Thus, instead of early onset during infancy, the age of onset of LOPD can range from less than 1 years old to 50s [ 8 ]. Besides the age of onset, LOPD is generally variable in disease progression and clinical manifestation as well.…”

Section: Iopd and Lopdmentioning

confidence: 99%

“…It is crucial to deliver the message that a baby with a healthy outlook can still inherit a genetic disease. For instance, the common c.-32-13T > G variant of PD would not result in IOPD but predicts LOPD [ 8 ].…”

Section: Recommended Treatment Protocol For Pdmentioning

confidence: 99%

The Clinical Management of Pompe Disease: A Pediatric Perspective

Marques

2022

Children

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Pompe disease (PD) is an inherited metabolic disorder caused by a deficiency of acid α-glucosidase (GAA), leading to lysosomal accumulation of glycogen, mainly in skeletal and cardiac muscles as well as the nervous system. Patients with PD develop cellular dysfunction and muscle damage. PD can be classified into two classic forms, namely infantile-onset PD (IOPD) and late-onset PD (LOPD). Delayed treatment, particularly in IOPD, would result in significant organ damage and early death. Nonetheless, early diagnosis and timely treatment are often hampered by the rarity of PD and its wide variety of, but overlapping, symptoms. This article reviews the common clinical presentations of PD and outlines the essentials of PD management. In particular, the implications of newborn screening (NBS) and clinical performance of enzyme replacement therapy (ERT) are highlighted.

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“…While both forms can be differentiated clinically, using physical symptoms and molecular and enzyme analyses, there exists no mechanism for predicting symptom onset for LOPD, making it complicated for healthcare providers to initiate treatment at the right time and provide follow‐up care (Kishnani et al, 2012; Peake et al, 2017). This aspect of NBS for PD raises ethical and psychosocial concerns with respect to parental experiences associated with increased surveillance to determine symptom onset, follow‐up care, insurance discrimination, and the uncertainty with LOPD diagnosis (Ficicioglu et al, 2020; Golden‐Grant et al, 2015; Klug et al, 2020; Van El et al, 2014; Wang, 2020).…”

Section: Introductionmentioning

confidence: 99%

Newborn screening for Pompe disease: Parental experiences and follow‐up care for a late‐onset diagnosis

Prakash

Penn

Jackson

et al. 2022

Journal of Genetic Counseling

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Pompe disease (PD) is a type of lysosomal storage disorder, in which the glycogen stored in lysosomes begins to accumulate due to deficiency of the enzyme acid alpha-glucosidase (GAA) (Barba-Romero et al., 2012). Deficiency of GAA causes accumulation of glycogen in skeletal, cardiac and smooth muscles leading to a clinical spectrum of PD. There is a high degree of variability among individuals affected with PD seen in age of onset, rate of disease progression and clinical phenotype (Chan et al., 2017). This condition is inherited in an autosomal recessive manner with incidences ranging from 1:14,000 in African Americans to 1:100,000 in individuals of European descent (Kishnani et al., 2012).Two broad subtypes have been classified clinically, depending on age of onset (before or after 1 year of age of the patient) and the residual GAA activity (Chan et al., 2017;Dasouki et al., 2014).Classic infantile-onset Pompe disease (IOPD) is a rapidly progressing form that can present shortly after birth with cardiomyopathy, cardiorespiratory failure, and death within the first year of life due to a lower concentration of GAA (Chan et al., 2017). Late-onset Pompe

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

Cited by 8 publications

References 21 publications

Co-occurrence of Glycogen Storage Disease Type 2 and Congenital Myasthenic Syndrome Type 5 in a Pediatric Patient: A Case Report

Co-occurrence of Glycogen Storage Disease Type 2 and Congenital Myasthenic Syndrome Type 5 in a Pediatric Patient: A Case Report

The Clinical Management of Pompe Disease: A Pediatric Perspective

Newborn screening for Pompe disease: Parental experiences and follow‐up care for a late‐onset diagnosis

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