Nutritional and metabolic diseases occur when the body fails to derive energy and properly synthesize the molecules it needs from fats, carbohydrates and proteins in food. Abnormal chemical reactions disrupt the digestion process and cause an imbalance, giving the body too much of some substances and not enough of others. A broad range of medical problems are caused by inherited genetic defects that interfere with the body’s metabolism. Most metabolic genetic defects are passed from both parents. There are thousands of metabolic disorders, each caused by a different genetic defect, and affect about one in every 4,000 people.
Acid Lipase Disease
Acid lipase disease (also known as Wolman’s disease) occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the body’s cells and tissues. This is usually fatal in the first year of life.
Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. Due to progressive neurological deterioration, death usually occurs within 1 to 10 years after the onset of symptoms.
Type 1 Diabetes
Type 1 Diabetes is a chronic (lifelong) disease that occurs when the pancreas does not produce enough insulin to properly control blood sugar levels. It is usually diagnosed in children and young adults, and was previously known as juvenile diabetes. Treatment is available to help children manage the condition and live long, healthy lives.
Gaucher (pronounced “go-SHAY”) disease is an inherited illness caused by a gene mutation. In people with Gaucher disease, the body is not able to properly produce an enzyme called glucocerebrosidase, and fat cannot be broken down. It then accumulates, mostly in the liver, spleen and bone marrow. Gaucher disease can result in pain, fatigue, jaundice, bone damage, anemia, and even death.
Glucose Galactose Malabsorption
Glucose-galactose malabsorption (GGM) is a condition in which the cells lining the intestine cannot take in the sugars glucose and galactose, which prevents proper digestion of these molecules and larger molecules made from them. GGM is characterized by severe diarrhea and dehydration as early as the first day of life, and can result in rapid death if lactose, sucrose, glucose and galactose are not removed from the diet.
Hereditary hemochromatosis is an inherited disorder that increases the amount of iron that the body absorbs from the gut. Excess iron is deposited in multiple organs of the body. Most commonly, excess iron in the liver causes cirrhosis, which may develop into liver cancer. Some people with the disease develop symptoms by age 20, although signs of the condition usually appear between ages 40 and 60, when iron in the body has reached damaging levels.
Lesch-Nyhan Syndrome affects how the body builds and breaks down purines, a normal part of human tissue that help make up the body’s genetic blueprint. Lesch-Nyhan Syndrome is inherited trait that occurs mostly in boys. Persons with this Syndrome are missing or are severely lacking an enzyme called hypoxanthine guanine phosphoribosyltransferase 1 (HGP). The body needs this enzyme to recycle purines. Without it, abnormally high levels of uric acid build up in the body, causing people to develop gout-like swelling in some of their joints. In some cases, kidney and bladder stones develop because of the high uric acid levels. Few patients live beyond 40 years.
Maple Syrup Urine Disease
Maple syrup urine disease (MSUD) is caused by a gene defect in which the body cannot break down the branched-chain amino acids leucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood. Urine in persons with this condition can smell like maple syrup. In the most severe form, MSUD can damage the brain during times of physical stress (such as infection, fever, or not eating for a long time).
Menkes Syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate; and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay and intellectual disability. Children with Menkes Syndrome typically begin to develop symptoms during infancy and often do not live past age 3.
Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. Abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. There are four types of the disease: A, B, C and D. Type A is the most severe and common, with children rarely living more than 18 months.
Metabolic Syndrome is the name for a group of risk factors linked to overweight and obesity. These risk factors increase the chance of having heart disease and other health problems, such as diabetes and stroke. Metabolic Syndrome includes insulin resistance, hypertension (high blood pressure), cholesterol abnormalities, and an increased risk for clotting.
Phenylketonuria (PKU) is a rare, inherited condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. The substance is found in foods that contain protein. Without the enzyme, levels of phenylalanine and two closely related substances build up in the body. These substances are harmful to the central nervous system and cause brain damage. PKU is a treatable disease. Treatment involves a diet that is extremely low in phenylalanine, particularly when the child is growing.
Prader-Willi Syndrome is a congenital disease that involves obesity, decreased muscle tone, decreased mental capacity, and sex glands that produce little or no hormones. The genetic changes occur randomly. Patients usually do not have a family history of the condition. Affected children have an intense craving for food, which results in uncontrollable weight gain. Morbid obesity may lead to lung failure with low blood oxygen levels, right-sided heart failure, and death.
Porphyrias are a group of rare genetic disorders caused by problems with how the body makes a substance called heme. Heme is found throughout the body, especially in the blood and bone marrow, where it carries oxygen. Porphyrias affect the skin or the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight.
Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell and a variety of other symptoms. More than 90 percent of all cases of Refsum disease result from mutations in the PHYH gene. The remaining are caused by mutations in a gene called PEX7. The signs and symptoms of Refsum disease result from the abnormal buildup of a type of fatty acid called phytanic acid, a substance found in beef and dairy products. Vision loss is caused by an eye disorder called retinitis pigmentosa, which usually begins with a loss of night vision during childhood. Over a period of years, the disease disrupts side (peripheral) vision and may eventually lead to blindness.
Tangier Disease is an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high-density lipoproteins. Large amounts of these compounds may accumulate in certain organs of the body. Affected people often develop premature atherosclerosis, characterized by fatty deposits and scar-like tissue lining the arteries. Other signs of this condition may include an enlarged spleen, an enlarged liver, clouding of the cornea, and early onset cardiovascular disease. Tangier disease is a rare disorder with approximately 50 cases identified worldwide.
Tay-Sachs disease is a rare, inherited disorder. It causes too much of a fatty substance to build up in tissues and nerve cells of the brain, destroying the nerve cells and causing mental and physical problems.
Infants with Tay-Sachs disease appear to develop normally for the first few months of life, but as nerve cells become distended with fatty material, mental and physical abilities deteriorate. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. Even with the best of care, all children with classic Tay-Sachs disease die early, usually by the age of 5, although some do live longer.
Wilson disease is a rare inherited disorder that causes the body to retain copper, preventing the liver from releasing copper into bile. Copper builds up in the liver and over time the damage causes the liver to release the copper directly into the bloodstream. Too much copper can damage kidneys, liver, brain and eyes. Usually the build-up of copper starts after birth. Symptoms usually start between ages 6 and 20, but can begin as late as age 40. The most characteristic sign is a rusty brown ring around the cornea of the eye.
Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that are variants of one disease process. Zellweger Syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form. Zellweger spectrum disorders can affect most organs of the body: the brain, loss of muscle tone, hearing loss, vision problems, liver dysfunction, and kidney abnormalities are common. These often result in severe, life-threatening complications during infancy. Some individuals with milder forms have lived into adulthood.
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