Which disease is attributed to the lack of enzyme

The mucopolysaccharidoses are a group of inherited diseases in which a defective or missing enzyme causes complex sugar molecules to accumulate in cells. As a result, progressive damage is done to the heart, bones, joints, respiratory system and central nervous system.

While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged. The severity of the disorder depends on the type and amount of cellular debris that accumulates, but almost all disorders are progressive. Many of these children die in infancy or early childhood. Affected individuals often have intellectual and developmental disabilities, cloudy corneas, short stature, stiff joints, incontinence, speech and hearing impairment, chronic runny nose, hernia, heart disease, hyperactivity, depression, pain and a dramatically shortened life span.

Nieman-Pick Disease refers to a group of inherited metabolic disorders known as lipid storage disorders. Patients diagnosed with these disorders lack a critical enzyme necessary to metabolize fatty substances in the body called lipids. As a result, harmful quantities of lipids accumulate in the spleen, liver, lungs, bone marrow and brain. Symptoms may include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech and an enlarged liver and spleen.

The most common type, Type A, occurs in infants. Children with this type rarely live beyond 18 months. Type B involves an enlarged liver and spleen, which usually occurs in the pre-teen years, but the brain is not affected.

Your body either uses these substances immediately, or stores them in the liver, body fat, and muscle tissues for later use. A metabolic disorder occurs when the metabolism process fails and causes the body to have either too much or too little of the essential substances needed to stay healthy.

Our bodies are very sensitive to errors in metabolism. The body must have amino acids and many types of proteins to perform all of its functions. For example, the brain needs calcium, potassium, and sodium to generate electrical impulses, and lipids fats and oils to maintain a healthy nervous system. You can develop a metabolic disorder if certain organs — for instance, the pancreas or the liver — stop functioning properly.

These kinds of disorders can be a result of genetics, a deficiency in a certain hormone or enzyme, consuming too much of certain foods, or a number of other factors.

There are hundreds of genetic metabolic disorders caused by mutations of single genes. These mutations can be passed down through generations of families. According to the National Institutes of Health NIH , certain racial or ethnic groups are more likely to pass on mutated genes for particular inborn disorders. The most common of these are:. According to the American Diabetes Association , In type 1 diabetes , the T cells attack and kill beta cells in the pancreas, the cells that produce insulin.

Over time, a lack of insulin can cause:. Hundreds of inborn errors in metabolism IEM have been identified, and most are extremely rare. Many of these disorders can only be treated by limiting dietary intake of the substance or substances the body cannot process. This condition causes an inability to break down a particular kind of fat, which accumulates in the liver, spleen, and bone marrow. This inability can result in pain, bone damage, and even death. This is a defect in the transport of glucose and galactose across the stomach lining which leads to severe diarrhea and dehydration.

Symptoms are controlled by removing lactose, sucrose, and glucose from the diet. In this condition , excess iron is deposited in several organs, and can cause:. MSUD disrupts the metabolism of certain amino acids, causing rapid degeneration of the neurons. If not treated, it causes death within the first few months after birth.

Treatment involves limiting the dietary intake of branched-chain amino acids. PKU causes an inability to produce the enzyme, phenylalanine hydroxylase, resulting in organ damage, mental retardation, and unusual posture. Metabolic disorders are highly complex and rare. Electrolytes are naturally occurring compounds that control important bodily functions.

Important electrolytes include calcium, magnesium, potassium…. Antidiuretic hormone ADH is a hormone that helps your kidneys manage the amount of water in your body. Red blood cells are normally shaped like discs, which allows them to travel through blood vessels. Sickle cell disease causes red blood cells to be….