A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report

J Pediatr Intensive Care. 2020 Jul 15;11(1):62-66. doi: 10.1055/s-0040-1714099.

PMID: 35178279

Meltem Bor, Ozkan Ilhan, Evren Gumus

Highlights: Early diagnosis and early treatment with enzyme replacement therapy (ERT), especially in the neonatal period, is of great importance to improve cardiac function and motor development in infantile-onset Pompe disease (PD).

Abstract

Background: A lack of the enzyme acid α-1,4-glucosidase causes the lysosomal storage disorder known as Pompe disease (PD), which is autosomal recessive (GAA). There are two types of PD: infantile-onset and late-onset. Infantile-onset type frequently results in cardio-respiratory failure and death within the first year of life in untreated patients.

Objective and results: Here, a newborn with infantile-onset PD is described who had respiratory distress, hepatomegaly, hypertrophic cardiomyopathy, muscular hypotonia, and elevated serum enzyme levels of aspartate aminotransferase of 117 IU/L (three times the normal value), alanine aminotransferase of 66 IU/L (1.8 times the normal value), lactate dehydrogenase of 558 IU/L (1.2 times the normal value), and creatine kinase >5,000 IU/L (16 times the normal value). Testing on dried blood spot demonstrated reduced GAA enzymatic activity (0.07 nmol/mL/h, normal 0.93–7.33 nmol/mL/h). The diagnosis was confirmed by GAA gene analysis, which revealed the homozygous mutation c.896T >C. (p.Leu299Pro). When enzyme replacement therapy (ERT; 20 mg/kg, once weekly) was started at 28 days of age, the respiratory abnormalities were restored within a week of treatment, and normal neuromotor development was seen in the 16th month.

Conclusion: Improved cardiac function and motor development in infantile-onset PD can be achieved with early diagnosis and ERT, especially during the neonatal period.

Keywords: enzyme replacement therapy, hypertrophic cardiomyopathy, infantile-onset Pompe disease, newborn