Pesquisa sobre: PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY 
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Descritor Inglês:   Persistent Hyperinsulinemia Hypoglycemia of Infancy 
Descritor Espanhol:   Hipoglicemia Hiperinsulinémica Persistente del Lactante 
Descritor Português:   Hipoglicemia Hiperinsulinêmica Persistente do Lactente 
Categoria:   C16.614.716
C18.452.394.968.750
C18.452.394.984.746
Definição Inglês:   A form of nontransient HYPOGLYCEMIA, unique to infancy, due to autosomal recessive mutations of the sulfonylurea receptor gene on CHROMOSOME 11. Defects in the sulfonylurea receptors (ATP-BINDING CASSETTE TRANSPORTERS) on the PANCREATIC BETA CELLS prevent negative feedback of GLUCOSE-regulated INSULIN release thus resulting in HYPERINSULINEMIA. Clinical phenotype includes SEIZURES; COMA; and often large BIRTH WEIGHT for GESTATIONAL AGE. 
Nota Histórica Inglês:   2004 
Qualificadores Permitidos Inglês:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Número do Registro:   38055 
Identificador Único:   D044903 

Ocorrência na BVS: 		 

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