hyperinsulinaemic hypoglycaemia type 5

(redirected from Congenital hyperinsulinism)
Also found in: Dictionary, Acronyms, Encyclopedia, Wikipedia.
Related to Congenital hyperinsulinism: Congenital hypothyroidism

hyperinsulinaemic hypoglycaemia type 5

An autosomal dominant condition (OMIM:609968) characterised by persistent hypoglycaemia in infancy due to defective negative feedback regulation of insulin secretion by low serum glucose levels.
 
Molecular pathology
Defects of INSR cause hyperinsulinaemic hypoglycaemia type 5.
References in periodicals archive ?
Hasegawa et al., "Clinical practice guidelines for congenital hyperinsulinism," Clinical Pediatric Endocrinology, vol.
Stanley, "Perspective on the genetics and diagnosis of congenital hyperinsulinism disorders," The Journal of Clinical Endocrinology and Metabolism, vol.
Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation.
Accuracy of [[sup.18]F]-fluorodopa PET for diagnosing and localizing focal congenital hyperinsulinism. J Clin Endocrinol Metab 2007 Sep 25; Epub ahead of print.
In medically managed patients with congenital hyperinsulinism, disease symptoms become milder over time.
Drug-induced hepatitis following use of octreotide for long-term treatment of congenital hyperinsulinism. BMJ Case Rep 2012:2012.
The genetic basis of congenital hyperinsulinism. J Med Genet 2009;46:289-299.
KATP channel mutations in congenital hyperinsulinism. Semin Pediatr Surg 2011;20:18-22.
The p.Glu128Lys variant has been reported previously as a recessively acting loss-of-function mutation in multiple unrelated patients with congenital hyperinsulinism (10,11,12).
Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive [K.sub.ATP] channel mutations.
Cognitive and developmental outcome of conservatively treated children with congenital hyperinsulinism. J Pediatr Endocrinol Metab 2013;26:301-308.
Fourteen unaffected parents were heterozygous for a mutation and are therefore carriers of congenital hyperinsulinism.

Medical browser ?
Full browser ?