Congenital hyperinsulinism
Last updated 19 Jul 2023
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterised by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.
Description
Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin. Insulin is a hormone that helps control levels of blood glucose, also called blood sugar. People with this condition have frequent episodes of low blood glucose (hypoglycemia). In infants and young children, these episodes are characterised by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.
The severity of congenital hyperinsulinism varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. Unlike typical episodes of hypoglycemia, which occur most often after periods without food (fasting) or after exercising, episodes of hypoglycemia in people with congenital hyperinsulinism can also occur after eating.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Hyperinsulinemia hypoglycemia of infancy
Infancy hyperinsulinemia hypoglycemia
Neonatal hyperinsulinism
Persistent hyperinsulinemia hypoglycemia of infancy
Persistent hyperinsulinemic hypoglycemia
PHHI hypoglycemia
Related patient information and medicines
Patient information leaflet
Wolff-Parkinson-White syndrome
Wolff-Parkinson-White syndrome is not common but can cause a fast heart rate or other heart rhythm abnormalities from time to time. Treatment can be given for the ... In Wolff-Parkinson-White (WPW) syndrome there is an extra connection (an accessory pathway) between the atria and ventricles. The accessory pathway in WPW syndrome is known as the.
Patient information leaflet
Cervical rib
About 1 in 100 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. This happens if the cervical rib squashes the nerves and blood vessels going into the arm. Wha... About 1 in 200 people are born with an extra rib called a cervical rib. Because this is something.
Patient information leaflet
Nephrotic syndrome
Fluid retention (oedema). This is a consequence of the low level of albumin i... FSGS accounts for up to 1 in 10 cases of nephrotic syndrome in children but a higher percentage of cases in adults. Congenital nephrotic syndrome This is a rare cause of nephrotic syndrome which affects children. 'Congenital' means it is present from birth. It is.
Patient information leaflet
Down's syndrome
Feeding difficulties are also very common for children with Down's syndrome. Heart defects Around half of babies with Down's syndrome will have a congenital heart defect (that is, a heart problem that they are born with). The most common problem is an atrioventricular septal defect (AVSD). Congenital heart problems (heart problems a person is born.
Patient information leaflet
Diabetes and pregnancy
Women who have diabetes need extra care during pregnancy. They should ideally seek medical advice from their specialist team when considering starting their family. Sometimes pregnancy causes the blood sugar to go up in women who do not have diabetes. This is called gestational diabetes. What is diabetes. Diabetes mellitus (just called diabetes.
Patient information leaflet
Cardiac catheterisation
Cardiac catheterisation is a way to find out detailed information about your heart and coronary arteries and it is also possible to provide treatment for some conditions at the same time. This can give detailed pictures from within coronary arteries. Cardiac catheterisation tests in children Cardiac catheterisation is commonly done to assess the.
Further reading and references
- Congenital hyperinsulinism; MedlinePlus, National Library of Medicine.
- Huopio H, Shyng SL, Otonkoski T, Nichols CG. K(ATP) channels and insulin secretion disorders. Am J Physiol Endocrinol Metab. 2002 Aug;283(2):E207-16. doi: 10.1152/ajpendo.00047.2002.
- James C, Kapoor RR, Ismail D, Hussain K. The genetic basis of congenital hyperinsulinism. J Med Genet. 2009 May;46(5):289-99. doi: 10.1136/jmg.2008.064337. Epub 2009 Mar 1.
- Kapoor RR, James C, Hussain K. Advances in the diagnosis and management of hyperinsulinemic hypoglycemia. Nat Clin Pract Endocrinol Metab. 2009 Feb;5(2):101-12. doi: 10.1038/ncpendmet1046.
- Meissner T, Wendel U, Burgard P, Schaetzle S, Mayatepek E. Long-term follow-up of 114 patients with congenital hyperinsulinism. Eur J Endocrinol. 2003 Jul;149(1):43-51. doi: 10.1530/eje.0.1490043.
- Mohamed Z, Arya VB, Hussain K. Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management. J Clin Res Pediatr Endocrinol. 2012 Dec;4(4):169-81. doi: 10.4274/jcrpe.821. Epub 2012 Oct 2.
- Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, Ganguly A, Shyng SL, Stanley CA. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Invest. 2008 Aug;118(8):2877-86. doi: 10.1172/JCI35414.
- Sandal T, Laborie LB, Brusgaard K, Eide SA, Christesen HB, Sovik O, Njolstad PR, Molven A. The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. Clin Genet. 2009 May;75(5):440-8. doi: 10.1111/j.1399-0004.2009.01152.x.
- Snider KE, Becker S, Boyajian L, Shyng SL, MacMullen C, Hughes N, Ganapathy K, Bhatti T, Stanley CA, Ganguly A. Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. J Clin Endocrinol Metab. 2013 Feb;98(2):E355-63. doi: 10.1210/jc.2012-2169. Epub 2012 Dec 28.
Join the conversation
Share your thoughts or experiences with others in our patient communities.
Ask, share, connect.
Browse discussions, ask questions, and share experiences across hundreds of health topics.
Sign up to the Patient newsletter
Your weekly dose of clear, trustworthy health advice - written to help you feel informed, confident and in control.
By subscribing you accept our Privacy Policy. You can unsubscribe at any time. We never sell your data.