PGM1

Clinical Characteristics for Families

PGM1-CDG patients have several aspects of their health affected. In childhood, they can present with developmental delay, which means that they often reach milestones later than other children of the same age. PGM1-CDG patients can also suffer from intellectual disability and learning difficulties. In addition, patients can suffer from low blood sugar levels, requiring frequent feeding. Heart problems, muscle weakness, inability to exercise for a long time and liver abnormalities are also common.