DeCS Server - List Exact Term

Search on:	PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY
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DeCS

Descriptor English:

Persistent Hyperinsulinemia Hypoglycemia of Infancy

Descriptor Spanish:

Hipoglicemia Hiperinsulinémica Persistente del Lactante

Descriptor Portuguese:

Hipoglicemia Hiperinsulinêmica Persistente do Lactente

Tree Number:

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

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