PGM1-CDG is a multisystemic disorder and phenotype severity varies between the patients. So far, no genotype-phenotype correlation has been made. Most common clinical presentation includes dysmorphic features such as cleft palate, bifid uvula and Pierre-Robin Sequence (PRS), muscle involvement, liver abnormalities, cardiac involvement, coagulation abnormalities, hypoglycemia, developmental delay, learning disability etc. Cardiac involvement is the most severe presentation in PGM1-CDG, which is present in half of reported patients. Unfortunately, many patients succumb to cardiac arrest in early age.
PGM1