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Summary
PENTOSURIA ESSENTIAL BENIGN PENTOSURIA
PNTSU PENTOSURIA PENTOSURIA
260800
OMIM = Online Medalian Inheritance of Men
2843
17q25.3
rare, common in Jews
autosomal recessive
mutation in the DCXR gene
symptoms
no consistent clinical signs or symptoms
onset, infancy
onset, neonatal
laboratory finding
L-Xylulose1.004.000.000.00g/24 hoursurineinfancy
D-Xylose900.001800.00 mmol/mol creatinineurine
Literature
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Vinciguerra C,et al.Eye movement changes in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)J Neurol Sci3501107-1092015
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996