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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
mutation in the PGM1 gene
symptoms
bifid uvula
cardiomyopathy, dilated
cleft palate
dyspnea
exercise intolerance
growth retardation, poor growth
hyperthermia
hypoglycemia
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
laboratory finding
Creatine kinase normal-increasedplasma
Myoglobin normal-increasedurine
Phosphoglucomutase-1 decreased activitymuscle
D-Glucose1.003.00 mmol/lplasma
Transaminases U/lserum
IEF of serum transferrin abnormalserum
Literature
Heissat S,et al.Neonatal hemochromatosis: diagnostic work-up based on a series of 56 cases of fetal death and neonatal liver failure.J Pediatr166166-732015
Sokollik C,Kreiter B, Wolf RNeonatal Hemochromatosis: Blitz Diagnosis Results in Favorable OutcomeJ Pediatr18402342017
Schiff Met al.A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentationMol Genet Metab872157-1772006
Kato J,et al.A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overloadAm J Hum Genet691191-1972001
Strassburg HMet al.Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complexNeuropediatrics373137-1412007