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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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Fructose-1,6-Bisphosphatase Deficiency
Hexosediphosphatase Deficiency
Fructose-Biphosphatase 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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Indexing Annotation English:
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an inborn error of fructose metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: FDP DEFIC
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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 CID-10 SciELO LILACS LIS
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