ArticleExperimental and therapeutic medicine2016
Infantile Pompe disease: A case report and review of the Chinese literature.
Article in Experimental and therapeutic medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 15 citations in OpenAlex.
- An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease.Italian journal of pediatrics · 2025Article
- Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.Orphanet journal of rare diseases · 2022Review
- A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report.Journal of pediatric intensive care · 2022Article
- Infantile-onset Pompe disease with neonatal debut: A case report and literature review.Medicine · 2017Review
- [Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II: an analysis of 3 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pompe disease, also known as glycogen storage disease type II, is caused by acid maltase deficiency, and can lead to lysosomal glycogen storage. The primal manifestations may be observed in children and adults, and also in infants. In general, the clinical spectrum in infants is more progressive and lethal than that in older patients. This case report describes the case of a newborn who was found to have cardiac hypertrophy, hepatomegaly and elevated serum enzyme levels, which was characterized by an aspartate aminotransferase level of 95 U/l, lactate dehydrogenase level of 778 U/l and creatine kinase level of 1,299 U/l. On the basis of the clinical signs and laboratory results, dried blood spots from the baby were tested to determine the acid α-glucosidase (GAA) activity, and the result confirmed that the GAA activity was only 0.10 pmol/punch/h (normal reference range, 2.88-89.02 pmol/punch/h) at pH 3.8, which was clearly lower than the normal range, leading to a diagnosis of Pompe disease. Pompe disease is incurable, and before the introduction of enzyme replacement therapy (ERT), pain relief was the main treatment. Recognizing this disease earlier and starting ERT in infants prior to the development of clinical symptoms is likely to improve the quality of life of patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.