Visit Metagene.de!
Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-It
CDG1T PGM1-CDG GLYCOGEN STORAGE DISEASE XIV GSD14
614921
OMIM = Online Medalian Inheritance of Men
319646
1p31.3
rare
autosomal recessive
symptoms
cardiomyopathy, dilated
dyspnea
exercise intolerance
liver involvement or dysfunction
muscle cramps
muscle weakness
short stature
thrombosis
laboratory finding
Creatine kinase normal-increasedplasma
Myoglobin normal-increasedurine
Phosphoglucomutase-1 decreased activitymuscle
Literature
Schiff Met al.A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentationMol Genet Metab872157-1772006
Strassburg HMet al.Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complexNeuropediatrics373137-1412007