1 / 1
|
DeCS
|
|
|
Descriptor English:
|
|
Persistent Hyperinsulinemia Hypoglycemia of Infancy
|
Descriptor Spanish:
|
|
Hipoglicemia Hiperinsulinémica Persistente del Lactante
|
Descriptor Portuguese:
|
|
Hipoglicemia Hiperinsulinêmica Persistente do Lactente
|
Tree Number:
|
|
C16.614.716
C18.452.394.968.750
C18.452.394.984.746
|
Definition English:
|
|
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. |
History Note English:
|
|
2004
|
Allowable Qualifiers English:
|
|
|
Record Number:
|
|
38055
|
Unique Identifier:
|
|
D044903
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS CID-10 SciELO LILACS LIS
|