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Article Type

Research Paper

Abstract

BACKGROUND: Pompe disease is a rare, progressive, and autosomal recessive lysosomal storage disorder caused by mutations in the acid α-glucosidase gene. This study illustrates a survey of infantile and late-onset Pompe disease (IOPD and LOPD) in Iraq. We have contacted the pediatricians and neurologists at the hospitals to request a set of clinical and genetic data for patients with IOPD and LOPD. OBJECTIVE: To determine the epidemiological distribution of Pompe disease in Iraq. MATERIALS AND METHODS: The study was performed in Iraqi hospitals; patients enrolled between March to October 2023, included 44 patients, from infancy to late adulthood, diagnosed by enzymic assay. RESULTS: Out of the 44 individuals diagnosed with Pompe disease, 30 (68.2%) were younger than one year, and females were 24 (54.5%) of the cases. A positive family history was identified in 21 (47.7%), and consanguinity was observed in 26 (59.1%). Regarding the distribution, Baghdad had the highest proportion at 43% (19 cases), followed by Kirkuk at 16% (7 cases) and Karbala at 11% (5 cases). The lowest proportions were observed in Babil and Diwaniyah, each accounting for 2% (1 case). Hypotonia was present in more than half of the patients, specifically 27 (61.4%). 26 patients (59.1%) were alive, while 18 (40%) had unfortunately died. A heterozygous genetic mutation was identified in 23 (52.3%), with 33 (75%) diagnosed with hypertrophic cardiomyopathy. Statistically significant associations were found between early disease onset and elevated levels of LFT and CPK (p-value=0.001). CONCLUSION: About 44 cases of Pompe disease were diagnosed in this study. Mortality was high in the early-onset group. Most cases were distributed in Baghdad. More than two-thirds of cases had hypertrophic cardiomyopathy. Creatine phosphokinase was elevated, and the mean alpha-glucosidase value was 0.2. Feeding difficulties, cyanosis, and shortness of breath were significantly associated with early onset. All patients received Myozyme treatment.

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