Fructose-1,6-Diphosphatase Deficiency
"Fructose-1,6-Diphosphatase Deficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D015319
|
| MeSH Number(s) |
C16.320.565.202.251.221 C18.452.648.202.251.221
|
| Concept/Terms |
Fructose-1,6-Diphosphatase Deficiency- Fructose-1,6-Diphosphatase Deficiency
- Deficiencies, Fructose-1,6-Diphosphatase
- Deficiency, Fructose-1,6-Diphosphatase
- Fructose-1,6-Diphosphatase Deficiencies
- Fructosediphosphatase Deficiency
- Deficiencies, Fructosediphosphatase
- Deficiency, Fructosediphosphatase
- Fructosediphosphatase Deficiencies
- Fructose-Biphosphatase Deficiency
- Deficiencies, Fructose-Biphosphatase
- Deficiency, Fructose-Biphosphatase
- Fructose Biphosphatase Deficiency
- Fructose-Biphosphatase Deficiencies
- Fructose-1,6-Bisphosphatase Deficiency
- Deficiencies, Fructose-1,6-Bisphosphatase
- Deficiency, Fructose-1,6-Bisphosphatase
- Fructose 1,6 Bisphosphatase Deficiency
- Fructose-1,6-Bisphosphatase Deficiencies
- Fructose 1,6 Diphosphatase Deficiency
Deficiency, Hexosediphosphatase- Deficiency, Hexosediphosphatase
- Deficiencies, Hexosediphosphatase
- Hexosediphosphatase Deficiencies
- Hexosediphosphatase Deficiency
|
Below are MeSH descriptors whose meaning is more general than "Fructose-1,6-Diphosphatase Deficiency".
- Diseases [C]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
- Fructose Metabolism, Inborn Errors [C16.320.565.202.251]
- Fructose-1,6-Diphosphatase Deficiency [C16.320.565.202.251.221]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Metabolism, Inborn Errors [C18.452.648]
- Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
- Fructose Metabolism, Inborn Errors [C18.452.648.202.251]
- Fructose-1,6-Diphosphatase Deficiency [C18.452.648.202.251.221]
Below are MeSH descriptors whose meaning is more specific than "Fructose-1,6-Diphosphatase Deficiency".
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