OBJECTIVE: Infantile @entity13785 is a lethal @entity299 . Current developments toward enzyme replacement therapy are promising. The aim of our study is to delineate the natural course of the disease to verify endpoints of clinical studies. METHODS: A total of 20 infantile @entity1 diagnosed by the collaborative Dutch centers and 133 cases reported in literature were included in the study. Information on clinical history, physical examination, and diagnostic parameters was collected. RESULTS: The course of @entity13785 is essentially the same in the Dutch and the general @entity1 population. Symptoms start at a median age of 1.6 months in both groups. The median age of death is 7.7 and 6 months, respectively. Five percent of the Dutch @entity1 and 8% of all reported @entity1 survive beyond 1 year of age. Only 2 @entity1 from literature became older than 18 months. A progressive @entity1283 is characteristic for @entity13785 . The diastolic thickness of the left ventricular posterior wall and cardiac weight at autopsy increase significantly with age. Motor development is severely delayed and major developmental milestones are generally not achieved. For the Dutch @entity1 group, growth deviates significantly from normal despite start of nasogastric tube feeding. Levels of @entity492 aminotransferase, @entity493 aminotransferase, @entity880 dehydrogenase, @entity908 kinase, or @entity908 kinase-myocardial band isoenzyme are typically elevated, although @entity492 aminotransferase, @entity493 aminotransferase, and @entity880 dehydrogenase increase significantly with age. The @entity1 have fully deleterious mutations. Acid alpha-glucosidase activity is severely deficient. CONCLUSIONS: Survival, decrease of the diastolic thickness of the left ventricular posterior wall, and achievement of major motor milestones are valid endpoints for therapeutic studies of @entity13785 . Mutation analysis and measurement of the alpha-glucosidase activity should be part of the enrollment program.

The natural course of XXXX : 20 original cases compared with 133 cases from the literature.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity1283 :: ('MESH:D006332', 'Disease') :: ['cardiac hypertrophy'] @entity908 :: ('MESH:D003401', 'Chemical') :: ['creatine'] @entity13785 :: ('MESH:D006009', 'Disease') :: ["infantile Pompe's disease", "Pompe's disease"] @entity492 :: ('CHEBI:29995', 'Chemical') :: ['aspartate'] @entity880 :: ('MESH:D019344', 'Chemical') :: ['lactate'] @entity299 :: ('MESH:D006331', 'Disease') :: ['cardiac and muscular disorder'] @entity493 :: ('CHEBI:16449', 'Chemical') :: ['alanine']
@entity13785 :: (MESH:D006009,Disease) :: ['infantile Pompe's disease']
