Enzymes are involved in almost every bodily process and especially in the metabolism of an organism. In a genetic or acquired enzyme defect, the biochemical activity of the affected enzymes changes, often resulting in enzymopathy. Some enzyme defects and deficiencies can now be compensated for with enzymatic substitution, which usually has to be carried out … Enzyme Defect: Causes, Symptoms & Treatment
Niemann-Pick disease is also known as Niemann-Pick disease. The inherited disease belongs to the lysosomal storage diseases. What is Niemann-Pick disease? Niemann-Pick disease is a disorder belonging to the group of sphingolipidoses. These are metabolic diseases that manifest largely in the central nervous system. Within the sphingolipidoses, the disease belongs to the lysosomal storage diseases. … Niemann-Pick Disease: Causes, Symptoms & Treatment
Definition – What is phenylketonuria? Phenylketonuria is a hereditary disease pattern that is expressed in a reduced breakdown of the amino acid phenylalanine. The tricky thing about the disease is that it has been present since birth and thus leads to an accumulation of the amino acid. From about the third month of life it … Phenylketonuria
Diagnosis of Phenylketonuria Diagnosis is carried out in two different ways as standard. One is the detection of the defective enzyme, the other is the detection of the greatly increased phenylalanine concentration in the blood. The first method is part of newborn screening as so-called tandem mass spectroscopy and indicates the defect without the need … Diagnosis of Phenylketonuria | Phenylketonuria
Prognosis vs. life expectancy in phenylketonuria The life expectancy of the affected persons depends on the one hand on the present form of phenylketonuria and on the other hand on the time when the disease is diagnosed. While a normal life expectancy is possible with a normal variant of phenylketonuria, there are rare variants of … Prognosis vs. life expectancy in phenylketonuria | Phenylketonuria
The induced-fit theory originated with Koshland and corresponds to an extension of the lock-and-key principle, which assumes that anatomical structures fit together. Induced-fit refers to enzymes such as kinase that change their conformation to form an enzyme-ligand complex. In enzyme defects, the induced-fit principle may be affected by perturbations. What is induced-fit? There is binding … Induced-fit: Function, Tasks, Role & Diseases
The diagnosis of Hurler’s disease is associated with an enormous psychological as well as physical burden not only for the affected person, but also for the parents, because the disease not only has an extremely complex, but also severe symptomatology. According to the current state of medicine, Hurler’s disease cannot be cured. Patients must be … Hurlers Disease: Causes, Symptoms & Treatment
Ochronosis is a congenital metabolic disease whose damaging effects on health usually do not become apparent until middle age. Because of the initial lack of symptoms, the metabolic disease is rarely diagnosed in young children. What is ochronosis? The medical name ochronosis is derived from the color ochre, a shade of yellow. As ochronosis progresses, … Ochronosis: Causes, Symptoms & Treatment
The treatment To directly address the cause of the disease, the patient must be supplied with the required enzyme. The therapy of Gaucher’s disease therefore consists in the administration of the enzyme by means of infusions through a venous access. This can be done, for example, once a month in a higher dosage or several … The treatment | Gaucher disease
Life expectancy Life expectancy in Gaucher’s disease depends mainly on the severity and type of the disease. Type I Gaucher disease, as a non-neuropathic disease, has only a slightly reduced life expectancy. The chronic neuropathic form is characterized by drastic life restrictions and severe suffering on the part of the patient. However, it is difficult … Life expectancy | Gaucher disease
What is Gaucher’s disease? Gaucher disease is a hereditary disease, i.e. a genetically transmitted disease in which fats are stored in unusual cells in the body. As a result, certain organs whose cells are affected are restricted in their function. Patients often show severe fatigue, blood anemia and enlargement of the liver and spleen. In … Gaucher disease
Classification according to severity Type I of Gaucher’s disease is also called “non-neuropathic form”. This means that no nerve damage occurs in this form. Here, the enzyme glucocerebrosidase is still working to a certain extent, so that the first problems occur in adulthood. These manifest themselves through enlargement of the spleen and liver. These organs … Classification according to severity | Gaucher disease
