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Given the 100 fold increase of the incidence of Pompe's disease in Western French Guiana, the objective of the present study is to implement systematic screening in newborns in French Guiana in order to start treatment before the muscular and cardiac symptoms appear.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| observational (no intervention) | Other |
| Measure | Description | Time Frame |
|---|---|---|
| acid maltase activity | The acid maltase enzyme activity is evaluated just after birth. If it is abnormal then PCR allows to identify signature mutations. | At birth |
| Signature mutation for pompe's disease | The acid maltase enzyme activity is evaluated just after birth. If it is abnormal then PCR allows to identify signature mutations. | At birth |
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Inclusion Criteria:
Exclusion Criteria:
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newborns
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| ID | Term |
|---|---|
| D006009 | Glycogen Storage Disease Type II |
| ID | Term |
|---|---|
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
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filter paper with blood to look for enzyme activity and if enzyme activity low, PCR looking for the signature mutations for infantile Pompe's Disease
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D006008 | Glycogen Storage Disease |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |