CONGENITAL DISORDER OF GLYCOSYLATION CDG-It | |
CDG1T; PGM1-CDG; GLYCOGEN STORAGE DISEASE XIV; GSD14 | |
614921
OMIM = Online Mendelian Inheritance of Men | |
319646 | |
Phosphoglucomutase-1 | |
5.4.2.2 | |
1p31.3 |
|
E77.8 | |
rare autosomal recessive mutation in the PGM1 gene | |
Laboratory findings | Creatine kinase normal/inc (plasma) D-Glucose dec (plasma) IEF of serum transferrin (serum) Myoglobin normal/inc (urine) Phosphoglucomutase-1 dec (muscle) Transaminases (ASAT/ALAT) inc (serum) |
Symptoms | bifid uvula cardiomyopathy, dilated cleft palate dyspnea exercise intolerance growth retardation, poor growth hyperthermia hypoglycemia hypoketotic hypoglycemia hypotonia liver involvement or dysfunction muscle cramps muscle weakness myopathy onset, childhood onset, infancy puberty, delayed or missing rhabdomyolysis short stature small chin or micrognathia thrombosis |