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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
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