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Essential fructosuria
1 OMIM reference -
1 associated gene
2 connected diseases
No signs/symptoms info
Disease Type of connection
Familial renal amyloidosis due to lysozyme variant
Familial hypocalciuric hypercalcemia type 3
Synonym(s):
- Fructokinase deficiency
- Ketohexokinase deficiency

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C538068

Gene symbol UniProt reference OMIM reference
KHK P50053614058
No signs/symptoms info available.