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Fructosuria MeSH Supplementary Concept Data 2024


MeSH Supplementary
Fructosuria
Unique ID
C538068
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C538068
Entry Term(s)
Essential benign fructosuria
Hepatic fructokinase deficiency
Ketohexokinase deficiency
Registry Number
0
Heading Mapped to
Fructokinases / *deficiency
*Fructose Metabolism, Inborn Errors
Frequency
22
Note
A benign hereditary defect of FRUCTOSE metabolism that results in a sharp increase in fructose excretion in the urine following ingestion of dietary fructose, SUCROSE, or SORBITOL. It is caused by mutations in the ketohexokinase (KHK) gene. OMIM: 229800
Date of Entry
2010/08/25
Revision Date
2016/09/29
Fructosuria Preferred
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