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Summary
GLYCOGEN STORAGE DISEASE TYPE II. INFANTILE ONSET. POMPE DISEASE
GSD2 GLYCOGEN STORAGE DISEASE II
232300
OMIM = Online Medalian Inheritance of Men
308552
17q25.3
  • enzyme replacement therapy
  • supportive/symptomatic therapy
rare (1:100000 )
autosomal recessive
1) infantile onset: cardiomegaly, progressive weakness, macroglossia
2) juvenile onset: (cardiac involvement), slower progression 3) adult onset: slowly progressive myopathy
symptoms
cardiomegaly
cardiomyopathy
cardiomyopathy, hypertrophic
early death
feeding difficulties, poor feeding
hepatomegaly (large liver)
hydrops fetalis
hypotonia
infections (severe or recurrent)
macroglossia, large/protuding tongue
muscle weakness
myopathy
onset, childhood
onset, infancy
onset, neonatal
progressive muscle defect
respiratory insufficiency
laboratory finding
Oligosaccharides increasedurine
alpha-Glucosidase0.200.90 100.00% of normalfibroblasts
alpha-Glucosidase 0.00 100.00% of normalmuscle
ECG abnormalities -
alpha-1,4-Glucosidase
Lymphocytes, vacuoles blood
Glycogen increasedall tissues
Aspartate aminotransferase (ASAT, SGOT) increasedplasma
cardiac Troponin T (cTnT) normal-increasedplasma
Literature
Tada Ket al.Vitamin B6 dependent xanthurenic aciduriaTohoku J Exp Med932115-1241967
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Cerone Ret al.Pregnancy and tyrosinaemia type IIJ Inherit Metab Dis. 2002 Aug25(4):317-8. 254317-3182002
Christensen Met al.Xanthurenic aciduria due to a mutation in KYNU encoding kynureninaseJ Inherit Metab Dis302248-2552007
Ten Brink HJvan den Heuvel CMM, Poll-The BT, Wanders RJA, Jacobs CPeroxysomal Disorders: Concentrations of metabolites in cerebrospinal fluid compared wth plasmaJ Inherit Metab Dis160587-5891993
Lupi Aet al.Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same familyJ Med Genet4312e582006
Hoffman GFet al.Pyridoxal-5-phosphate may be curative in early-onset epileptic encephalopathyJ Inher Met Dis30096-992007
Grabhorn Eet al.Neonatal hemochromatosis: long-term experience with favorable outcomePediatrics11852060-20652006
Ten Brink HJvan den Heuvel CMM, Poll-The BT, Wanders RJA, Jacobs CPeroxysomal Disorders: Concentrations of metabolites in cerebrospinal fluid compared wth plasmaJ Inherit Metab Dis160587-5891993
Thompson GNet al.The use of metronidazole in management of methylmalonic and propionic acidaemiasEur J Pediatr14911792-7961990
Jakobs CJaeken J, Gibson KMInherited disorders of GABA metabolismJ Inherit Metab Dis164704-7151993