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Fructose-1,6-Diphosphatase Deficiency

Go to external page http://purl.bioontology.org/ontology/MESH/D015319

An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal.

Instance info

Synonyms

Fructose-1,6-Bisphosphatase Deficiencies, Deficiencies, Fructose-1,6-Diphosphatase, Fructosediphosphatase Deficiencies, Hexosediphosphatasemangel (DE), Fructose-1,6-Diphosphatase Deficiencies, Fructose-Biphosphatase Deficiency, Deficiencies, Fructose-1,6-Bisphosphatase, Deficiency, Fructosediphosphatase, Deficiency, Hexosediphosphatase, Deficiencies, Fructosediphosphatase, Fructose-Biphosphatase Deficiencies, Fructose 1,6 Bisphosphatase Deficiency, Fructosediphosphatase Deficiency, Fructose-1,6-Biphosphatasemangel (DE), Hexosediphosphatase Deficiencies, Deficiencies, Hexosediphosphatase, Fruktose-1,6-Diphosphatasemangel (DE), Fruktose-Biphosphatasemangel (DE), Deficiency, Fructose-1,6-Bisphosphatase, Fructose-1,6-Bisphosphatase Deficiency, Fructose Biphosphatase Deficiency, Hexosediphosphatase Deficiency, Fructose 1,6 Diphosphatase Deficiency, Deficiency, Fructose-Biphosphatase, Deficiency, Fructose-1,6-Diphosphatase, Deficiencies, Fructose-Biphosphatase

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

HN

91(89); was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90

MDA

19880531

MMR

20120703

MN

C16.320.565.202.251.221,C18.452.648.202.251.221

PM

91; was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90

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/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,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/Q000662,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,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/D005633

TERMUI

T045051,T045053,T045052,T045055,T045054,T045057,T045056

TH

OMIM (2013),NLM (1989),UNK (19XX),NLM (1994)

cui

C0019489,C0016756

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C537900

tui

T047

Instance relations

Types