Journal article
The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients


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Author list: Zuhair N. Al-Hassnan, Ola A. Khalifa, Dalal K. Bubshait, Sahar Tulbah, Maarab Alkorashy, Hamad Alzaidan, Mohammed Alowain, Zuhair Rahbeeni, Moeen Al-Sayed
Publisher: Elsevier
Publication year: 2018
Journal: Molecular Genetics and Metabolism Reports
Journal name in source: Molecular Genetics and Metabolism Reports
Volume number: 15
Issue number: June 2018
Start page: 50
End page: 54
Number of pages: 5
ISSN: 2214-4269
Web of Science ID: 000433183100011
PubMed ID: 30023291
Scopus ID: 85041689914


Infantile-Onset Pompe Disease (IOPD) is an autosomal recessive disorder of glycogenmetabolism resulting from deficiency of the lysosomal hydrolase acid α-glucosidaseencoded by GAA gene. Affected infants present before the age of 12 months with hypotonia, muscle weakness, and hypertrophic cardiomyopathy. Enzyme replacement therapy (ERT) has been shown to improve survival, cardiac mass, and motor skills. In this work, we aim to illustrate the genotypes of IOPD and the outcome of ERT in our population. The medical records of infants with confirmed diagnosis of IOPD who received ERT were reviewed. Eighteen infants (7 males, 11 females) were included in the study. The median age at presentation was 2 months and the median age at the start of ERT was 4.5 months. Fifteen (83.3%) infants died with a median age at death of 12 months. The 3 alive infants (whose current ages are 6½ years, 6 years, and 10 years), who were initiated on ERT at the age of 3 weeks, 5 months, and 8 months respectively, has had variable response with requirement of assisted ventilation in one child and tracheostomy in another child. All infants were homozygous for GAA mutations except one infant who was compound heterozygous. All infants (n = 8) with truncating mutations died. Our work provides insight into the correlation of genotypes and outcome of ERT in IOPD in Saudi Arabia. Our data suggest that early detection of cases, through newborn screening, and immunomodulation before the initiation of ERT may improve the outcome of ERT in Saudi infants with IOPD.

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Last updated on 2018-18-11 at 10:17