Albuminuria: Too much albumin in the urine. Albumin is a protein found in the blood that a healthy kidney does not let pass from the blood to the urine. This can be a sign of kidney disease.
Aldehyde Reductase: A key enzyme in the liver responsible for converting fructose to sorbitol; prior ARIs had potential off-target effects and inhibited aldehyde reductase, leading to liver injury and elevated liver enzymes.
Aldose Reductase: A key enzyme in the polyol pathway, catalyzes the reduction of glucose to sorbitol, leading to excessive accumulation of intracellular reactive oxygen species (ROS) in various tissues including the heart, vasculature, neurons, eyes, and kidneys. Aldose Reductase also converts galactose into galactitol, which is a toxic metabolite that builds up in tissues and organs and can cause the long-term complications of Galactosemia.
Atherosclerosis: A disease of the arteries that occurs when there is a buildup of fats, cholesterol, and other substances that can restrict blood flow. Diabetes, among other conditions, can be a risk factor for developing atherosclerosis.
Charcot-Marie-Tooth Disease: A group of inherited disorders that cause nerve damage. This damage is mostly in the arms and legs (peripheral nerves). Charcot-Marie-Tooth disease is also called hereditary motor and sensory neuropathy.
Clinical trials: Research studies performed in people that are aimed at evaluating a medical, surgical, or behavioral intervention.
Coagulation deficiencies: Occurs when proteins that are responsible for clotting the blood are missing, not present in sufficient amounts, or not working properly. This results in a tendency for bleeding to continue longer than it should.
Congenital disorders: When a baby has a condition that is present from birth, which can be inherited or caused by environmental factors and their impact on a child’s health and development can vary from mild to severe.
Distal Heridatary Motor Neuropathy (dHMN): Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement of the hands and feet.
Dyslipidemia: An abnormal level of cholesterol and other lipids, also called fats, in the blood. High levels of lipids can increase the risk of getting a heart attack or heart disease.
Dyspraxia: A neurological (having to do with the nervous system) disorder that impacts a person’s ability to plan and process motor tasks. An individual with dyspraxia often has language problems.
Echocardiogram: A noninvasive test that can be used to estimate how well the heart and valves are functioning by bouncing high-frequency sound waves (ultrasound) off circulating red blood cells.
Endogenous: In science and medicine, this means that a substance is produced within the organism (such as the human body) itself. It can also mean that a condition is caused by factors inside the organism.
Enzyme: A biological catalyst and is almost always a protein that speeds up the rate of a specific chemical reaction in the cell.
Failure to thrive: Children whose current weight or rate of weight gain (how quickly they are adding or losing weight) is much lower than normal for a similar age and gender. This can be caused by diseases such as PMM2-CDG.
Galactitol: An abnormal toxic metabolite only produced in patients with Galactosemia, as a result of the abnormal metabolism of galactose in the absence of a needed enzyme.
Genetic Testing: A type of medical test that can identify changes in chromosomes or genes, which serve as instructions for the body to produce important molecules called proteins. A genetic test can help health care professionals diagnose specific diseases, including SORD Deficiency or PMM2-CDG.
Glycosylation: A biochemical process where a glycan, which is a large carbohydrate molecule that contains many small and connected sugar molecules, attaches to a protein, a lipid, or other organic molecule, especially through the catalytic action of certain enzymes.
Heart Failure: A debilitating and progressive disease that occurs when the heart muscle doesn’t pump blood as well as it should. Diabetic Cardiomyopathy is a form of Stage B Heart Failure.
Hereditary neuropathies: Hereditary neuropathies are a group of inherited disorders affecting the peripheral nervous system. The hereditary neuropathies are divided into four major subcategories: hereditary motor and sensory neuropathy, hereditary sensory neuropathy, hereditary motor neuropathy, and hereditary sensory and autonomic neuropathy.
Hormonal insufficiency: Occurs when a person has too little of one or more hormones, which are the body’s chemical messengers. Hormonal insufficiency can be a symptom and/or cause of diseases, including PMM2-CDG.
Hyperglycemia: Hyperglycemia is the technical term for high blood glucose (blood sugar). High blood sugar happens when the body has too little insulin or when the body can’t use insulin properly.
Hypertension: Another name for high blood pressure. It can lead to severe health complications and increase the risk of heart disease (including DbCM), stroke and sometimes death.
Isoelectric Focusing (IEF): IEF allows physicians to separate molecules such as proteins or enzymes based upon their electrical charge. This allows physicians to detect abnormal serum transferrin, which can diagnose CDG due to N-glycosylation such as PMM2-CDG.
Leukemia: A type of cancer that affects the blood and bone marrow, which is a type of tissue in bones that makes blood-forming cells.
Lymphoma: A cancer of a part of the immune system called the lymph system. There are many types of lymphoma.
Motor nerve conduction velocity (MNCV): A test that can measure how fast an electrical impulse moves through a nerve. This can help identify damage to nerves that connect to muscles and is important in the diagnosis of diseases such as SORD Deficiency.
Neuropathy: A nerve problem that causes pain, numbness, tingling, swelling, or muscle weakness in different parts of the body. It usually begins in the hands or feet and gets worse over time. Neuropathy may be caused by cancer or cancer treatment, such as chemotherapy. It may also be caused by physical injury, infection, toxic substances, or conditions such as diabetes, kidney failure, or malnutrition. Also called Peripheral Neuropathy.
NT-proBNP: A substance made by the heart that is released in response to changes in pressure inside the heart. Levels of NT-proBNP can increase if there is physical stress on the heart. Health care professionals can test NT-proBNP levels using a blood test to determine if a patient is at risk for heart disease.
Orphan Disease: An orphan disease is a rare disease or condition that affects fewer than 200,000 people in the United States.
Pharmacokinetics: Represents “what the body does to the drug”. It is used to describe how a drug is absorbed, distributed, metabolized (broken down), and excreted (flushed out) from the body.
PI3 Kinase Inhibitors: A type of drug that slows down or stops the PI3 Kinase enzyme(s) from working. PI3 Kinases are enzymes involved in signaling pathways that are important to many cellular functions such as cell growth, differentiation, proliferation, motility, and metabolism. PI3 Kinases are often involved in cancer development.
Sorbitol: A sugar converted from glucose by the enzyme Aldose Reductase. Sorbitol accumulation is involved in the development of diabetic complications, such as Diabetic Cardiomyopathy, and rare diseases, such as SORD Deficiency.
Sorbitol dehydrogenase: The enzyme that converts sorbitol to fructose in the polyol pathway, which is a reaction involved in the development of diabetic complications, such as Diabetic Cardiomyopathy, and rare diseases, such as SORD Deficiency.
T-Cell: A type of white blood cell that is an important part of the immune system and helps the body fight pathogens.
X-Ray Crystallography: This is a scientific tool that is used to find out and look at the structure of molecules. A specific molecule is crystallized, and beams of X-rays are passed through it, which allows scientists to understand where atoms are positioned and how they are connected within the molecule.
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