0-9
- 6-fluoro-(18F)-L-3,4-dihydroxyphenylalanine positron emission tomography (18F-DOPA PET)
- A specialized imaging test that detects focal HI using a radioactive tracer by highlighting areas where overproducing beta cells are in the pancreas
- 68Ga-NODAGA-Exendin-4 PET/CT
- A specialized imaging test that detects focal HI using a radioactive tracer by highlighting areas where overproducing beta cells are in the pancreas
A
- Acquired hyperinsulinism
- Excessive insulin production that develops after birth. This can happen in babies due to conditions like birth stress (e.g., low oxygen or being small or large for gestational age) or being born to a diabetic mother. It can look similar to persistent hyperinsulinism but is usually temporary
- Amino acids
- The building blocks of proteins in the body. In HI, certain amino acids—like leucine—can trigger insulin release.
- Atypical hyperinsulinism
- A diffuse form of HI that does not match typical patterns.
B
- Beckwith-Widemann Syndrome (BWS)
- A genetic condition that can be associated with hyperinsulinism in newborns. Babies with BWS may have an overgrown pancreas that makes too much insulin, leading to hypoglycemia.
- Beta cells
- Cells found in the pancreas that make and release insulin into the blood
- Beta hydroxybutyrate (BOHB)
- A ketone measured to check if the body is using fat for energy. Typically BOBH is low in HI due to high insulin levels
- Blood glucose
- The amount of sugar in the blood
C
- Centers of Excellence (COE)
- Specialized medical centers known for providing the highest level of care, research, and support for people with a specific condition, like congenital hyperinsulinism (HI). You can learn more about the COEs and see where they’re located https://congenitalhi.org/the-chi-centers-of-excellence-coe-program/
- Clinical trial
- A carefully planned medical study where doctors test new treatments, devises, or ways of diagnosing a disease to see if they are safe and effective. You can learn more about HI clinical trials by visiting https://congenitalhi.org/clinical-research-trials/
- Collaborative Research Network (CRN)
- The CHI Collaborative Research Network (CRN) is a dynamic international collaboration of researchers, clinicians, and expert patient and caregiver advocates working together to accelerate hyperinsulinism research.
- Congenital Hyperinsulinism (HI, sometimes abbreviated CHI or cHI)
- A rare condition where the pancreas makes too much insulin, leading to low blood glucose (see hypoglycemia)
- Congenital Hyperinsulinism International (CHI)
- A nonprofit organization with the global mission to improve the lives of people affected by congenital hyperinsulinism (see HI) through awareness, research, and support
- Continuous Glucose Monitor (CGM)
- A device that tracks blood glucose levels in real time to help manage hypoglycemia in HI.
- Critical sample
- A blood test taken during hypoglycemia to help diagnose the cause, including HI.
D
- Diabetes
- A condition where the body no longer makes enough insulin. Diabetes can occur in some HI patients after near-total pancreatectomy
- Diazoxide
- A medicine used as the first treatment for HI. It helps prevent the pancreas from making too much insulin.
- Diffuse HI
- A form of HI where the beta cells in the entire pancreas make too much insulin
- Diuretic
- A medicine that helps remove extra fluid; may be used in people with HI who are taking diazoxide
- Dysglycemia
- Blood glucose levels outside of the normal range, including both highs and lows
E
- Echocardiogram
- An ultrasound of the heart that may be done to check for heart issues before and after some HI treatments
- Endocrinologist
- A doctor that has special training in diagnosing and treating conditions involving hormones and the organs that produce hormones
- Enzymes (in the context of pancreatic insufficiency)
- Digestive proteins made by the pancreas. After pancreatectomy, someone may have low enzyme production, requiring replacement
F
- Family conference
- A meeting of patients, their family members, healthcare teams, researchers, and biotechnology industry experts to talk about a particular condition (like HI) and discuss current successes and concerns and present future directions
- Focal hyperinsulinism
- A form of HI where only a small part of the pancreas makes too much insulin. It can often be cured with surgery to remove just that area.
G
- Gastrostomy pump (G-tube)
- A feeding device delivering nutrition through a tube into the stomach. G tubes are often used in infants with HI who can’t eat enough by mouth.
- Genes
- Parts of our DNA that carry instructions for how our bodies grow and work. Changes in certain genes can cause conditions like HI.
- Glucagon
- Glucagon is a hormone that can be used as a medicine to quickly raise blood sugar when it drops too low.
- Glucokinase (Gck)
- An enzyme that helps control insulin release. Variants in Gck can cause a rare form of HI
- Glucometer
- A handheld device that checks blood glucose levels
- Glucose
- A type of sugar that can be used for energy. It’s the main source of fuel for the brain and body.
- Glutamate dehydrogenase (GDH)
- An enzyme affected in HI/HA that results in high insulin and ammonia levels
H
- HI Global Registry (HIGR)
- A natural history research study that collects information about patient and caregiver experiences with HI over a lifetime
- Hyperinsulinism
- A condition where the pancreas makes too much insulin, causing low blood glucose
- Hyperinsulinism/hyperammonemia syndrome (HI/HA)
- A type of HI caused by gene variants in glutamate dehydrogenase, leading to high insulin and high ammonia
- Hypoglycemia
- A condition where blood glucose levels are too low
- Hypoglycemia unawareness
- When someone doesn’t feel symptoms of low blood glucose. This can occur in people with frequent HI episodes
I
- Insulin
- A hormone made by the pancreas that helps move sugar from the blood into cells to be used for energy
J
K
- K-ATP channel
- A cell channel that controls insulin release. Variants in the K-ATP channel may cause HI
- Kabuki Syndrome
- A genetic disorder that may include HI as part of its symptoms, along with distinct facial features and developmental delays
- Ketone
- A molecule made when the body burns fat. Ketones are often low or absent in HI due to high insulin levels
- Ketotic hypoglycemia
- Low blood glucose with high ketones. This differs from most forms of HI, where ketones are usually low
L
- Lanreotide
- A medicine used to treat HI by reducing insulin levels
- Lesionectomy
- Surgery to remove a focal lesion (overactive insulin-producing area) in the pancreas causing HI
- Leucine
- An amino acid that can trigger low blood glucose in certain forms of HI, like HI/HA
- LightCure
- A research project using light targeted to the pancreas to cure HI
M
- Maturity-onset diabetes of the youth (MODY)
- A genetic form of diabetes; some MODY types may overlap with HI symptoms
- Mechanism of disease
- A term that is used to describe the way a disease occurs
- Mosaic hyperinsulinism
- HI where only parts of the pancreas carry the genetic variant
N
- Nasogastric (NG) tube
- A feeding tube passed through the nose into the stomach that is typically used short-term in HI for feeding support.
- Near-total pancreatectomy
- Surgery removing nearly all of the pancreas, sometimes in an effort to better manage HI
- Necrotizing enterocolitis
- A serious gut condition in newborns that can be a side effect of medication
O
- Octreotide
- A medicine used to treat HI by reducing insulin levels
P
- Pancreas
- An organ in the stomach that helps with digestion and produces hormones like insulin and glucagon
- Pancreatectomy
- Removal of part or all of the pancreas to reduce insulin production in severe HI
- Pancreatic insufficiency
- An inability of the pancreas to make enough digestive enzymes
- Pathologists
- Doctors who examine tissues (like pancreatic samples) to help diagnose the type of HI
- Pathology
- The medical study of tissues and cells to understand disease. Pathology testing is the key to confirming HI type after surgery
- Perinatal stress-induced hyperinsulinism (PSHI)
- Temporary HI in newborns caused by stress during or around birth
- Persistent hyperinsulinism
- HI that does not go away early in life and usually needs long-term treatment
- Polycystic Kidney Disease
- A genetic disorder causing kidney cysts that may present with HI
Q
R
- Radiologists
- Doctors who interpret imaging (like DOPA PET scans) to find insulin-secreting areas in HI
- Registry
- A collection of information about people with a certain condition that is used to learn more and improve treatments. HIGR is the registry for HI.
- Rubenstein-Taybi Syndrome
- A genetic condition sometimes linked to HI that may include developmental and physical differences
S
- Somatostatin
- A hormone that blocks insulin release. Synthetic forms can be used to treat HI
- Subcutaneous
- Under the skin. Many HI medications like octreotide are given this way
- Subtotal pancreatectomy
- Partial removal of the pancreas to lower insulin production in some people with HI
- Syndromic hyperinsulinism
- HI that occurs as part of a broader genetic syndrome, like BWS or Kabuki syndrome
T
- Tachyphylaxis
- When a drug (like octreotide) becomes less effective over time, requiring dose changes in HI treatment
- Transient hyperinsulinism
- A type of HI that only lasts for a short time early in life. It may require a short-term treatment but goes away over time.
U
V
- Variants
- Changes in a gene from what is expected. Some variants can cause conditions like HI. Other variants may have no effect on health.
W
X
Y
Z
