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Summary
GLUCOSE-GALACTOSE MALABSORPTION
606824
OMIM = Online Medalian Inheritance of Men
35710
22q12.3
  • galactose-free diet
  • low-glucose diet
rare
autosomal recessive
DD may be difficult from microvillus atrophy, congenital dodium malabsorption and other congenital sugar malabsorptions therapy: glucose- and galactose-free diet
symptoms
dehydration
diarrhea
failure to thrive
glucosuria
metabolic acidosis
nephrocalcinosis
onset, newborn
laboratory finding
Glucose0.000.00 increasedurineno data
breath hydrogen test
Galactose increasedserum
Glucose increasedstool
Literature
Spencer CTet al.Cardiac and clinical phenotype in Barth syndromePediatrics1182e337-3462006
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Pearl PLet al.Succinic semialdehyde dehydrogenase deficiency in children and adultsAnn Neurol54673-802003
de Koning TJet al.Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiencyEur J Pediatr15912939-9402000
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
Kimura Met al.A sensitive method for 4-hydroxybutyric acid in urine using gas chromatography-mass spectrometryJ Chromatogr B Analyt Technol Biomed Life Sci7921141-1442003
Rosa GDet al.Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: A novel subtype of 3-methylglutaconic aciduria.J Inher Met Dis290546-5502006
de Koning TJet al.Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiencyNeuropediatrics316287-2922000
Hauff KDHatch GMCardiolipin metabolism and Barth SyndromeProg Lipid Res45291-1012006