Molecular genetics and metabolism reports · 2025
Integrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Sharma Anuradha, Vashist Minakshi, Kaushik Rohit, Rohilla Gulshan, Narwal Sonia
Аннотация
BACKGROUND: Infantile-onset Pompe disease is a severe lysosomal storage disorder caused by biallelic pathogenic variants in GAA , leading to deficient acid α-glucosidase activity.
CASE: We report a 6-month-old South Indian male with recurrent respiratory infections, feeding difficulty, generalized hypotonia, and delayed motor milestones. Dried blood spot(DBS) enzyme assay demonstrated markedly reduced acid α-glucosidase activity, and molecular testing identified a homozygous pathogenic variant in GAA (c.2560C > T; p.Arg854*). Parental segregation testing confirmed both parents as heterozygous carriers. Serum creatine phosphokinase was 853 U/L. A cardiac evaluation was recommended but not completed at the time of initial assessment.
CONCLUSION: This case underscores the diagnostic value of integrating enzyme and molecular testing when infantile-onset Pompe disease is suspected. While newborn screening for Pompe disease exists in some regions, it is not universally implemented, contributing to delays in diagnosis. Early identification allows appropriate counseling and consideration of available management pathways.
KEY CLINICAL MESSAGE: Infantile-onset Pompe disease should be considered in infants presenting with hypotonia, recurrent respiratory infections, feeding difficulties, and delayed motor milestones. Combining dried blood spot enzyme assay with confirmatory molecular testing of the GAA gene enables timely diagnosis, informs counseling, and guides management even in settings where access to enzyme replacement therapy is limited.
CASE: We report a 6-month-old South Indian male with recurrent respiratory infections, feeding difficulty, generalized hypotonia, and delayed motor milestones. Dried blood spot(DBS) enzyme assay demonstrated markedly reduced acid α-glucosidase activity, and molecular testing identified a homozygous pathogenic variant in GAA (c.2560C > T; p.Arg854*). Parental segregation testing confirmed both parents as heterozygous carriers. Serum creatine phosphokinase was 853 U/L. A cardiac evaluation was recommended but not completed at the time of initial assessment.
CONCLUSION: This case underscores the diagnostic value of integrating enzyme and molecular testing when infantile-onset Pompe disease is suspected. While newborn screening for Pompe disease exists in some regions, it is not universally implemented, contributing to delays in diagnosis. Early identification allows appropriate counseling and consideration of available management pathways.
KEY CLINICAL MESSAGE: Infantile-onset Pompe disease should be considered in infants presenting with hypotonia, recurrent respiratory infections, feeding difficulties, and delayed motor milestones. Combining dried blood spot enzyme assay with confirmatory molecular testing of the GAA gene enables timely diagnosis, informs counseling, and guides management even in settings where access to enzyme replacement therapy is limited.