DeCS

Descritor em português:

Erros Inatos do Metabolismo da Frutose

Descritor em inglês:

Fructose Metabolism, Inborn Errors

Descritor em espanhol:

Errores Innatos del Metabolismo de la Fructosa

Espanhol da Espanha

Descritor	anomalías congénitas del metabolismo de la fructosa
Termo(s) alternativo(s)	errores congénitos del metabolismo de la fructosa metabolopatías congénitas de la fructosa
Nota de escopo:	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.

Descritor em francês:

Erreurs innées du métabolisme du fructose

Código(s) hierárquico(s):

C16.320.565.202.251
C18.452.648.202.251

Identificador Único RDF:

https://id.nlm.nih.gov/mesh/D015318

Nota de escopo:

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.

Qualificadores permitidos:

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

Identificador do conceito	M0023586
Nota de escopo	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.
Termo preferido	Fructose Metabolism, Inborn Errors

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