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Summary
SUCRASE-ISOMALTASE DEFICIENCY
DISACCARIDE INTOLERANCE I
222900
OMIM = Online Medalian Inheritance of Men
35122
3q25-q26
  • diet
rare (~200 cases) autosomal recessive
symptoms
dehydration
diarrhea
failure to thrive
metabolic acidosis
nephrocalcinosis
onset, infant
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
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
Moraes CTet al.mtDNA depletion with variable tussue expression: an novel genetic abnormality in mitochondrial diseasesAm J Hum Genet480492-5011991
Burlina ABDionisi-Vici C, Bennett MJ, Gibson KM, Servidei S, Bertini E, Hale DE, Schmidt-Sommerfeld E, Sabetta G, Zacchello F, RinA new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblastsJ Pediatr124179-861994