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Increased level of xylitol in urine

MedGen UID:
1632042
Concept ID:
C4703640
Finding
HPO: HP:0410074

Definition

An increase in the level of xylitol in the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased level of xylitol in urine

Conditions with this feature

Deficiency of ribose-5-phosphate isomerase
MedGen UID:
220946
Concept ID:
C1291609
Disease or Syndrome
Ribose 5-phosphate isomerase deficiency (RPIAD) is an autosomal recessive inborn error of metabolism of the pentose phosphate pathway that presents with leukoencephalopathy and peripheral neuropathy (Huck et al., 2004).

Recent clinical studies

Therapy

Takayasu S, Kamba A, Yoshida K, Terui K, Watanuki Y, Ishigame N, Mizushiri S, Tomita T, Nakamura K, Yasui-Furukori N, Daimon M
BMC Nephrol 2020 May 1;21(1):157. doi: 10.1186/s12882-020-01814-9. PMID: 32357847Free PMC Article
Shimamoto K, Higashiura K, Nakagawa M, Masuda A, Shiiki M, Miyazaki Y, Ise T, Fukuoka M, Hirata A, Iimura O
Tohoku J Exp Med 1995 Dec;177(4):271-8. doi: 10.1620/tjem.177.271. PMID: 8928187
Bánóczy J, Scheinin A, Pados R, Ember G, Kertész P, Pienihäkkinen K
Acta Odontol Scand 1985 Dec;43(6):349-57. doi: 10.3109/00016358509046518. PMID: 3867219
Roe FJ
Swed Dent J 1984;8(3):99-111. PMID: 6592775
Hauschildt S, Chalmers RA, Lawson AM, Schultis K, Watts RW
Am J Clin Nutr 1976 Mar;29(3):258-73. doi: 10.1093/ajcn/29.3.258. PMID: 176881

Clinical prediction guides

Roe FJ, Bär A
Hum Toxicol 1985 Jan;4(1):27-52. doi: 10.1177/096032718500400104. PMID: 3988303
Bánóczy J, Scheinin A, Pados R, Ember G, Kertész P, Pienihäkkinen K
Acta Odontol Scand 1985 Dec;43(6):349-57. doi: 10.3109/00016358509046518. PMID: 3867219

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