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DeCS
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Descriptor English:
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Fructose-1,6-Diphosphatase Deficiency
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Descriptor Spanish:
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Deficiencia de Fructosa-1,6-Difosfatasa
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Descriptor Portuguese:
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Deficiência de Frutose-1,6-Difosfatase
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Synonyms English:
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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
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Tree Number:
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C16.320.565.202.251.221
C18.452.648.202.251.221
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Definition English:
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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. |
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History Note English:
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91(89); was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90
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Allowable Qualifiers English:
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Record Number:
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23636
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Unique Identifier:
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D015319
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Occurrence in VHL:
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Similar:
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DeCS
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