01
AGL
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
Diseases
Fructose-1,6-Bisphosphatase Deficiency
fructose-1,6-bisphosphatase deficiency
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Fructose-1,6-Bisphosphatase Deficiency
- Standard Disease Name
- fructose-1,6-bisphosphatase deficiency
- MeSH Tree
- No data
- ICD-10
- E74.19
Identifiers
- DO ID
- No data
- MeSH ID
- D015319
- OMIM ID
- 229700
- UMLS ID
- C0016756
- HPO ID
- No data
Description and Extensions
- Description
- MSH2017_2016_08_12: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.
Related
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Related Targets
target disease8 Targets