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Summary
SUCRASE-ISOMALTASE DEFICIENCY
DISACCARIDE INTOLERANCE I
222900
OMIM = Online Medalian Inheritance of Men
35122
3q26.1
  • diet
rare (~200 cases)
autosomal recessive
mutation in the SI gene
symptoms
dehydration
diarrhea
failure to thrive
malabsorption
metabolic acidosis
nephrocalcinosis
onset, infancy
pain, abdominal
laboratory finding
Isomaltase 100.00decreased activityduodenal mucosa
Sucrase 0.101.9010.30U/g wet tissueduodenal mucosa
H2-excretion test
Calcium increasedserum
Literature
Maaswinkel-Mooij PDet al.Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemiaJ Pediatr1280679-6831996
Loring HS,Flotte TRCurrent status of gene therapy for alpha-1 antitrypsin deficiencyExpert Opin Biol Ther153329-3362015
Duvoix A,Roussel BD, Lomas DAMolecular pathogenesis of alpha-1-antitrypsin deficiencyRev Mal Respir3110992-10022014
Hoffmann GFDie Mevalonazidurie - eine Stoffwechselerkrankung der Cholesterin- und IsoprenoidbiosyntheseThieme Verlag Stuttgart New York001994
Tritschler HJet al.Mitochondrial myopathy of childhodd associated with depletion of mitochondrial DNANeurology420209-2171992
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Teschler HLong-term experience in the treatment of alpha1-antitrypsin deficiency: 25ÔÇàyears of augmentation therapyEur Respir Rev2413546-512015
Moraes CTet al.mtDNA depletion with variable tussue expression: an novel genetic abnormality in mitochondrial diseasesAm J Hum Genet480492-5011991