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Descriptor English:   Fructose-1,6-Diphosphatase Deficiency 
Descriptor Spanish:   Deficiencia de Fructosa-1,6-Difosfatasa 
Descriptor Portuguese:   DeficiÍncia de Frutose-1,6-Difosfatase 
Synonyms English:   Deficiencies, Fructose-1,6-Bisphosphatase
Deficiencies, Fructose-1,6-Diphosphatase
Deficiencies, Fructose-Biphosphatase
Deficiencies, Fructosediphosphatase
Deficiencies, Hexosediphosphatase
Deficiency, Fructose-1,6-Bisphosphatase
Deficiency, Fructose-1,6-Diphosphatase
Deficiency, Fructose-Biphosphatase
Deficiency, Fructosediphosphatase
Deficiency, Hexosediphosphatase
Fructose 1,6 Bisphosphatase Deficiency
Fructose 1,6 Diphosphatase Deficiency
Fructose Biphosphatase Deficiency
Fructose-1,6-Bisphosphatase Deficiencies
Fructose-1,6-Bisphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiencies
Fructose-Biphosphatase Deficiencies
Fructose-Biphosphatase Deficiency
Fructosediphosphatase Deficiencies
Fructosediphosphatase Deficiency
Hexosediphosphatase Deficiencies
Hexosediphosphatase Deficiency  
Tree Number:   C16.320.565.202.251.221
Definition English:   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. 
History Note English:   91(89); was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   23636 
Unique Identifier:   D015319 

Occurrence in VHL: