What is HIHA?
Abstract. The hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common form of congenital hyperinsulinism (HI). Children affected by this syndrome have both fasting and protein sensitive hypoglycemia combined with persistently elevated ammonia levels.
What is hyperinsulinism?
Hyperinsulinemia (hi-pur-in-suh-lih-NEE-me-uh) means the amount of insulin in your blood is higher than what’s considered normal. Alone, it isn’t diabetes. But hyperinsulinemia is often associated with type 2 diabetes. Insulin is a hormone that’s normally produced by your pancreas, which helps regulate blood sugar.
What is ha in disease?
When an eating disorder is present, the most common cause of missing a period is hypothalamic amenorrhea (HA). The hypothalamus is an area of the brain that plays a central role in maintaining the balance of body systems.
What is congenital Hyperinsulin?
Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia).
What causes hidradenitis?
Hidradenitis suppurativa develops when hair follicles become blocked. The exact cause for this isn’t known. Experts think it could be connected to hormones, genetic predisposition, cigarette smoking or excess weight.
What is Mercer infection?
Methicillin-resistant Staphylococcus aureus (MRSA) is an infection caused by Staphylococcus (staph) bacteria. This type of bacteria is resistant to many different antibiotics. These bacteria naturally live in the nose and on the skin and generally don’t cause any harm.
How is Chi diagnosed?
How is CHI diagnosed? Once a child is stable, the team will confirm or rule out a diagnosis of CHI, this is usually done through detailed blood and urine tests taken while a child’s blood glucose level is low.
What is DM patient?
Diabetes mellitus is a disorder in which the body does not produce enough or respond normally to insulin, causing blood sugar (glucose) levels to be abnormally high. Urination and thirst are increased, and people may lose weight even if they are not trying to.
Are HS and PCOS related?
Polycystic ovary syndrome (PCOS) is associated with hidradenitis suppurativa (HS), according to a recent study, and it is recommended that HS patients with symptoms or signs of androgen excess should be screened for PCOS.
How is hyperinsulinism-hyperammonemia syndrome ( hiha ) defined?
Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting…
How is gain of function related to HI / HA syndrome?
Gain of function mutations in the mitochondrial enzyme glutamate dehydrogenase (GDH) are responsible for the HI/HA syndrome. GDH is expressed in liver, kidney, brain, and pancreatic beta-cells. Patients with the HI/HA syndrome have an increased frequency of generalized seizures, especially absence-type seizures, in the absence of hypoglycemia.
What happens to a child with hyperammonemia syndrome?
Asymptomatic and persistent hyperammonemia (about 3 to 5 times the normal range) is observed. Children with HIHA frequently present seizures (most commonly atypical or absence) and learning difficulties. Neurologic abnormalities appear to be unrelated to hypoglycemia.
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