Search on: PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY 
Descriptors Found: 1
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Descriptor English:   Congenital Hyperinsulinism 
Descriptor Spanish:   Hiperinsulinismo Congénito 
Descriptor Portuguese:   Hiperinsulinismo Congênito 
Synonyms English:   Persistent Hyperinsulinemia Hypoglycemia of Infancy  
Tree Number:   C06.689.150
C16.614.200
C18.452.394.968.250
C18.452.394.984.200
Definition English:   A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8). 
See Related English:   ATP-Binding Cassette Transporters
 
History Note English:   2013(2004) 
Allowable Qualifiers English:  
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
Record Number:   38055 
Unique Identifier:   D044903 

Occurrence in VHL: 		 

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