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