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Hereditary metabolic diseases

Hereditary metabolic diseases - monogenic pathology, in which gene mutation entails certain pathochemical disorders.

The classification is as follows.

1. Hereditary diseases of amino acid metabolism: Alcaptonuria, albinism, hypervalinemia, histidinemia, homocystinuria, leucinosis, tyrosinosis, phenylketonuria.

2. Hereditary diseases of carbohydrate metabolism: galactosemia, glycogenosis, disaccharidase deficiency, lactic acidosis, fructose intolerance.

3. Hereditary diseases of lipid metabolism: plasma lipidosis (hereditary hyperlipidemia, hypercholesterolemia, mucolipidoses; lecithin-cholesterol acetyl-graftsferase deficiency); cell lipidosis — agangliosidosis (Tay – Sachs disease); sphingolipidosis (Niemann-Pick disease), cerebrozidosis (Gaucher disease).

4. Hereditary diseases of purine and pyrimidine metabolism: gout, Lesch-Nyhan syndrome, orotic aciduria.

5. Hereditary diseases of metabolism of corticosteroid biosynthesis: adrenogenital syndrome, hypoaldosteronism.

6. Hereditary diseases of the exchange of porphyrins and bilirubin: Crigler-Nayyar syndrome, Gilbert.

7. Hereditary diseases of connective tissue metabolism: mucopolysaccharidosis, Marfan disease, Ehlers-Danlos syndrome.

Hereditary diseases of metal metabolism: Wilson-Konovalov disease, Menkes disease (copper metabolism), hemochromatosis (iron metabolism), familial periodic paralysis (potassium metabolism).

9. Hereditary diseases of erythron metabolism: hemolytic anemia, Fanconi anemia.

10. Hereditary diseases of the metabolism of lymphocytes and leukocytes: immunodeficiency states with deficiency adenosine deaminase, septic granulomatosis.

11. Hereditary diseases of the metabolism of the kidney system (tubulopathy): renal tubular acidosis, de Tony-Debre-Fanconi disease, vitamin D-resistant rickets, etc.

12. Inherited gastrointestinal metabolic diseases: malabsorption syndrome in case of disaccharidase deficiency, chloride orrep, intestinal glucose transport pathology, galactose.

Diagnostic criteria: mental retardation; athetosis, ataxia, convulsive syndrome, repeated coma; recurrence of ketoacidosis; peculiar smell of urine; myopathy, anomalies of the skeleton, immunodeficiency; hair and skin changes, cataracts; hepatosplenomegaly, malabsorption syndrome; unexplained sibs deaths.

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Hereditary metabolic diseases

    Hereditary diseases associated with metabolic disorders, develop as a result of changes in genetic information. If the formation of a specific trait is presented as a reading of the hereditary code recorded on the TsNK, and its implementation through a complex chain of biochemical transformations, then the hereditary metabolic diseases can be considered as a peculiar genetically
  2. Organizational aspects of screening newborns for hereditary metabolic diseases. Principles of Genetic Counseling in Neonatology Practice
    Genetic screening - identifying in a population of individuals with a certain genotype, which either causes the disease (examination of all newborns for hereditary metabolic diseases), or predisposes to the occurrence of the disease (genetic testing), or increases the likelihood of the disease in the offspring (survey of entering into a marriage to identify heterozygous carriers at
  3. Dysfunction of the nervous system caused by hereditary metabolic disorders
    Disorders of the nervous system in congenital metabolic disorders result from the influence of several factors: • direct damage to nerve cells due to the lack of any enzyme; • accumulation of certain undigested metabolic products outside the cellular fluid; • damage to other organs (eg, liver); • damage to cerebral vessels.
  4. Phytotherapy of metabolic diseases
    Metabolism (metabolism) is the basis of life and is the most important specific sign of living matter, distinguishing living from nonliving. Its essence is the process of continuous entry into the body from the outside of various organic and inorganic compounds, their assimilation, alteration and elimination of the formed decay products into the environment. Metabolism
  5. Metabolic diseases
    Exchange diseases
    Gene diseases. Types of inheritance. Population method. Cytogenetic method. Chromosomal diseases. Prevention. Problem solving. Calculation of genetic risk. 1. Determine what offspring can be expected in marriages: a) a woman with trisomy on the X chromosome (47, + X), a man with Down syndrome (47, + 21); b) a healthy woman (46, XX) and a man with Klinefelter syndrome (47, XXY). 2. Classic
  8. Hereditary disorders of amino acid metabolism (aminoacidopathy)
    The relevance of considering interstitial amino acid metabolism disorders is determined by the fact that this pathology is reflected, first of all, on the function of the nervous system and is one of the main causes of dementia. Knowledge of this pathology is necessary in the practice of neonatologists and genetic laboratories for the prevention and early correction of oligophrenia. Phenylpyruvic oligophrenia (synonym -
  9. Special treatment of metabolic disorders
    Metabolic disorders in diabetes, regardless of the various pathogenetic aspects, are based on insulin deficiency. Diet, muscular work and the use of insulin and perorial antidiabetic drugs for more than 20 years are the basis of treatment in each case. Treatment methods Oral diabetes therapy, medications, see table. 25. Insulin: Drugs Used
  10. Heart damage in metabolic disorders
    Metabolic disorders in the body always affect the course of metabolic processes in the myocardium, often causing a violation of its function and structure. In various diseases, one or several pathways of metabolism may be initially disturbed, which further necessarily affects the energy supply of the heart muscle. With some metabolic disorders in the interstitial myocardial tissue and in
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