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Descriptor English: Fructose Metabolism, Inborn Errors
Descriptor Spanish: Errores Innatos del Metabolismo de la Fructosa
Descriptor anomalías congénitas del metabolismo de la fructosa
Entry term(s) errores congénitos del metabolismo de la fructosa
metabolopatías congénitas de la fructosa
Scope note: Anomalía hereditaria del metabolismo de la fructosa, que incluye tres tipos conocidos autosómicos recesivos: déficit de fructoquinasa hepática (fructosuria esencial), intolerancia hereditaria a la fructosa, y déficit hereditario de fructosa-1,6-difosfatasa. La fructosuria esencial es un trastorno metabólico benigno y asintomático ocasionado por un déficit de fructoquinasa, que produce disminución en la conversión de fructosa a fructosa-1-fosfato e hiperfructosemia alimentaria, pero sin disfunción clínica; puede producir una prueba de diabetes falso-positiva.
Descriptor Portuguese: Erros Inatos do Metabolismo da Frutose
Descriptor French: Erreurs innées du métabolisme du fructose
Tree number(s): C16.320.565.202.251
C18.452.648.202.251
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D015318
Scope note: Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Carbohydrate Metabolism, Inborn Errors (1966-1988)
Fructose (1966-1988)
Public MeSH Note: 89; FRUCTOSE INTOLERANCE was see under CARBOHYDRATE METABOLISM, INBORN ERRORS 1967-88 (Prov 1964-66)
Online Note: use CARBOHYDRATE METABOLISM, INBORN ERRORS to search FRUCTOSE METABOLISM, INBORN ERRORS 1966-74
History Note: 89; FRUCTOSE INTOLERANCE was see under CARBOHYDRATE METABOLISM, INBORN ERRORS 1967-88 (Prov 1964-66)
Entry Version: FRUCTOSE METAB INBORN ERR
DeCS ID: 23637
Unique ID: D015318
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1989/01/01
Date of Entry: 1988/05/31
Revision Date: 2006/07/05
Fructose Metabolism, Inborn Errors - Preferred
Concept UI M0023586
Scope note Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test.
Preferred term Fructose Metabolism, Inborn Errors



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