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Fructose Metabolism, Inborn Errors

Go to external page http://purl.bioontology.org/ontology/MESH/D015318

Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test.

Instance info

Synonyms

Fruktosestoffwechsel, angeborener Defekt (DE), Fruktosestoffwechsel, angeborene Störungen (DE)

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

19890101

HN

89; FRUCTOSE INTOLERANCE was see under CARBOHYDRATE METABOLISM, INBORN ERRORS 1967-88 (Prov 1964-66)

MDA

19880531

MMR

20060705

MN

C18.452.648.202.251,C16.320.565.202.251

OL

use CARBOHYDRATE METABOLISM, INBORN ERRORS to search FRUCTOSE METABOLISM, INBORN ERRORS 1966-74

PM

89; FRUCTOSE INTOLERANCE was see under CARBOHYDRATE METABOLISM, INBORN ERRORS 1967-88 (Prov 1964-66)

QB

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D044904,http://purl.bioontology.org/ontology/MESH/D009100,http://purl.bioontology.org/ontology/MESH/D015323,http://purl.bioontology.org/ontology/MESH/D005693,http://purl.bioontology.org/ontology/MESH/D006960,http://purl.bioontology.org/ontology/MESH/D018981,http://purl.bioontology.org/ontology/MESH/D009081,http://purl.bioontology.org/ontology/MESH/D007787,http://purl.bioontology.org/ontology/MESH/D006008,http://purl.bioontology.org/ontology/MESH/D005645,http://purl.bioontology.org/ontology/MESH/D009083,http://purl.bioontology.org/ontology/MESH/D005955

TERMUI

T045050

TH

NLM (1989)

cui

C0016752

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C538068

tui

T047

Instance relations

Types