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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, neonatal
laboratory finding
D-Glucose0.000.00 increasedurineno data
breath hydrogen test
D-Galactose increasedserum
D-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