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Traditional Medicine Data Platform
Diseases

Fructose-1,6-Bisphosphatase Deficiency

fructose-1,6-bisphosphatase deficiency

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Entity Type
Diseases
Relation Groups
3
Relation Preview
24

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.