Terminology Service for NFDI4Health
An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.
Instance info
Synonyms
Intolerance, Fructose, Deficiency, Aldolase B, Fructose-1-Phosphate Aldolase Deficiency, Deficiency, Fructose-1-Phosphate Aldolase, Fructose Aldolase B Deficiency, Fructosemia, ALDOB Deficiencies, Aldolase Deficiency, Fructose-1,6-Biphosphate, ALDOB Deficiency, Aldolase B Deficiencies, Fructose Intolerances, Hereditary, Aldolase B Deficiency, Hereditary Fructose Intolerances, Fructose Intolerance, Hereditary, Fructose 1,6 Biphosphate Aldolase Deficiency, Fructosemias, Fructose Intolerances, Intolerances, Fructose, Fructose-1,6-Biphosphate Aldolase Deficiencies, Fructose-1-Phosphate Aldolase Deficiencies, Fruktoseintoleranz (DE), Deficiency, ALDOB, Hereditary Fructose Intolerance, Aldolase Deficiencies, Fructose-1-Phosphate, Aldolase Deficiency, Fructose-1-Phosphate, Fructose-1,6-Biphosphate Aldolase Deficiency, Aldolase Deficiencies, Fructose-1,6-Biphosphate, Fructose 1,6 Bisphosphate Aldolase B Deficiency, Fructose 1 Phosphate Aldolase Deficiency, Deficiency, Fructose-1,6-Biphosphate Aldolase, Deficiencies, Aldolase B, Deficiencies, ALDOB, Fructose-1,6-Bisphosphate Aldolase B Deficiency, Deficiencies, Fructose-1,6-Biphosphate Aldolase, Deficiencies, Fructose-1-Phosphate Aldolase
AN
an inborn error of fructose metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
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
19910101
FX
D005634
HN
1991(1975); use FRUCTOSE METABOLISM, INBORN ERRORS 1989-1990; use CARBOHYDRATE METABOLISM, INBORN ERRORS 1964-1988
MDA
19990101
MMR
20130708
MN
C18.452.648.202.251.271,C16.320.565.202.251.271
PM
1991; see FRUCTOSE METABOLISM, INBORN ERRORS 1989-1990; see CARBOHYDRATE METABOLISM, INBORN ERRORS 1967-1988
QB
http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,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/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,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
RO
http://purl.bioontology.org/ontology/MESH/D005634
SIB
http://purl.bioontology.org/ontology/MESH/D015319
TERMUI
T811547,T750973,T750972,T017036,T750971,T811543,T811545,T811546,T817356,T750974
TH
GHR (2014),ORD (2010),OMIM (2013),NLM (2010),NLM (1975),NLM (2013)
cui
C0016751
hasSTY
http://purl.bioontology.org/ontology/STY/T047
tui
T047
Instance relations
Types