Persistent Hyperinsulinemia Hypoglycemia of Infancy
"Persistent Hyperinsulinemia Hypoglycemia of Infancy" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
Descriptor ID |
D044903
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MeSH Number(s) |
C16.614.716 C18.452.394.968.750 C18.452.394.984.746
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Concept/Terms |
Persistent Hyperinsulinemia Hypoglycemia of Infancy- Persistent Hyperinsulinemia Hypoglycemia of Infancy
- Congenital Hyperinsulinism
- Hyperinsulinism, Congenital
- Hyperinsulinemia Hypoglycemia of Infancy
- Infancy Hyperinsulinemia Hypoglycemia
- PHHI Hypoglycemia
- Hypoglycemia, PHHI
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