- Types of metabolic disorders - characteristic abnormalities
- Abnormalities
Lipid metabolism
Fats are an important source of energy for the body. For lipolysis uses a group of enzymes. In some cases, these enzymes are not produced or are not working properly, which ultimately could lead to harm to many organs. Lipid metabolism also called lipidosis.
Gaucher disease
When Gaucher disease in the body tissues accumulate glucocerebroside, substances are products of lipid metabolism. Gaucher disease - the most common of lipidosis. It causes enlargement of the liver and spleen, as well as excessive skin pigmentation. The accumulation of glucocerebroside in the eyes is the reason for the appearance of yellow spots on the whites of the eyes. The accumulation of these substances in the bone marrow can cause pain and destruction of the bone.
The most common type 1 Gaucher disease, which is characterized by enlargement of the liver, spleen, and bone abnormalities. Typically, the disease is observed in adults, much less - in children.
Gaucher disease type 2 develops in infants. They also increased the liver, there are serious problems with the nervous system and, in most cases, these patients die within a year. The third type of disease develops in older children. Symptoms of the disease are enlarged liver and spleen, disturbances in the structure of the bone, slowly progressive abnormalities, affecting the nervous system. Patients who survive to adolescence, have a chance to live many more years.
Many patients with Gaucher disease are successfully treated with the enzyme replacement therapy, in which enzymes are injected - usually every two weeks. This therapy is most effective for people who have complications of the disease was not affected by the nervous system.
Sachs' disease
Patients with this disorder gangliosides accumulate in the tissues - the products of lipid metabolism. At a very early age in patients with children regress in development, and a very low muscle tone. Develop spasticity, and then - paralysis, dementia, and blindness. Typically, children with Tay-Sachs disease die before they reach only up to three to four years. This disease can be detected using chorionic villus sampling or amniocentesis. It is impossible to cure.
NPD
Deficiency of certain enzymes in the NPD causes accumulation of sphingomyelin - another product of lipid metabolism - or cholesterol. The most severe form of the disease found in people of Jewish origin, her soft species observed in all ethnic groups. In children with Niemann - Pick type (the most severe) slows growth, and there are numerous neurological problems. Usually, these children do not live up to three years.
Report type B result in areas of increased pigmentation in the skin, increasing the liver, spleen and lymph nodes. Perhaps the backlog of mental development. Symptoms of the disease, Niemann - Pick type C occur in childhood - in typical cases seizures and various neurological disorders.
Some of the types of disorders can be diagnosed before birth. After giving birth to diagnose a liver biopsy is needed. None of the forms of the disease Niemann - Pick untreatable. Patients die from infections or progression of dysfunction of the central nervous system.
Fabry Disease
In this condition violated exchange glycolipids, whose accumulation can lead to benign tumors (angeokeratom) on the skin of the lower trunk. Perhaps corneal opacity that causes poor vision. Patients may have burning pain in the hands and feet, they often suffer from the heat; eventually they develop renal insufficiency and heart disease, although most commonly patients survive to middle age.
Fabry disease can be diagnosed at the stage of fetal development. To cure it is impossible, but is now being tested method of treatment using a transfusion of missing enzymes. To facilitate more patients prescribed analgesics. Those who have developed kidney failure, you may need a kidney transplant.
Disorders of fatty acid oxidation
Of the disorders of this type is most common deficiency of acyl-CoA dehydrogenase fatty acids with medium chain length (MCAD). Among the inhabitants of the Nordic deficit MCAD - one of the most common metabolic disorders
Metabolism: The basis of life of all living things
.
Symptoms usually appear between birth and the attainment of the age of three. Especially likely onset of symptoms, when between meals takes too much time, or when increases the body's need for calories. A child with MCAD deficiency observed symptoms such as weakness, vomiting and seizures. Due to lower blood sugar
Blood sugar - a very important indicator
possible confusion and coma. In the long term may lag in mental and physical development, enlargement of the liver, heart muscle weakness, and irregular heartbeat. In some patients, sudden death occurs.
Children suffering from the deficiency MCAD, should eat often, never skip meals and to eat a diet that includes a lot of carbohydrates and low in fat. It may be useful Carnitine. Long-term prognosis is generally favorable.
Metabolic pyruvate
Pyruvate - a substance formed during processing of carbohydrates and proteins. Problems with his metabolism may limit the ability of cells to produce energy and lead to the accumulation of lactic acid. In exchange pyruvate involves many enzymes. Congenital deficiency of any of them can cause a variety of diseases. These symptoms may appear at any time between infancy and adulthood. Intensive exercise and infections may aggravate the symptoms and cause lactic acidosis. Pyruvate metabolism disorders are diagnosed by determining the degree of activity of enzymes in the liver and skin.
Deficiency of pyruvate dehydrogenase complex - is the lack of a group of enzymes necessary for the processing of pyruvate. Some infants with this diagnosis are abnormal development of the brain. Other children appear healthy after birth, but later they have symptoms such as muscle weakness, seizures, poor coordination of movements and serious problems with the vestibular apparatus. Often there is mental retardation. This disease can not be cured, but some children helps a diet high in carbohydrates and a limited amount of fat.
Pyruvate carboxylase deficiency - a very rare condition which violates or completely blocks the production of glucose
Glucose: The energy source
, Resulting in the blood accumulate lactic acid and ketones. Often, the disease becomes cause of death of patients. Surviving children usually have severe mental retardation
Mental retardation - if the mind is underdeveloped
They often suffer from muscle spasms; A recently published case reports of pyruvate carboxylase deficiency with mild symptoms. Some patients can be improved or stabilized with the help of the private consumption of foods rich in carbohydrates and limiting the proportion of protein in the diet.