Diseases of children (pediatrics)

Rickets

Rickets is a disease of young children caused by insufficient intake and / or formation of vitamin D in the body, characterized by a violation of bone formation and the functions of various organs and systems due to changes in phosphorus-calcium metabolism.

Mitochondrial diseases due to a violation of beta oxidation of fatty acids

The study of mitochondrial diseases caused by the violation of beta oxidation of fatty acids with different lengths of the carbon chain was started in 1976, when scientists first described patients with deficiency of acyl-CoA dehydrogenase of medium-chain fatty acids and glutaric acidemia of type II.

Mitochondrial diseases due to disorders of the Krebs cycle

The main representatives of this group of diseases are mainly associated with deficiency of the following mitochondrial enzymes: fumarase, a-keto-glutarate dehydrogenase complex, succinate dehydrogenase and aconitase.

Mitochondrial diseases due to defects in oxidative phosphorylation

The population frequency of this group of diseases is 1:10 000 live births, and diseases caused by a mitochondrial DNA defect, approximately 1: 8000.

Mitochondrial diseases caused by impaired metabolism of pyruvate

Among genetically determined diseases of pyruvic acid metabolism, defects of pyruvate dehydrogenase complex and pyruvate carboxylase are isolated. Most of these conditions, with the exception of the deficiency of E, the alpha component

Trigopolydystrophy of Menkes

Menkes' trichopolydystrophy (curly hair, OMIM 309400) was first described by JH Menkes in 1962. The incidence is 1: 114 000-1: 250 000 newborns. It is inherited recessively linked to the X chromosome. D

Wolfram syndrome: causes, symptoms, diagnosis, treatment

Tungsten Syndrome (DIDMOAD syndrome - Diabetes Insipidus, Diabetes Mettitus, Optic Atrophy, Deafness, OMIM 598500) is described for the first time by DJ Wolfram and N.R. WagenerB 1938 as a combination of juvenile diabetes mellitus and optical atrophy, which was subsequently supplemented with diabetes insipidus and deafness. To date, about 200 cases of this disease have been described.

Alger's progressive sclerosing polyiodystrophy

Alger's progressive sclerosing polyiodystrophy (OMIM 203700) was first described by BJ Alpers in 1931. The population frequency has not yet been established. It is inherited by autosomal recessive type. The localization of the gene is not established.

Subacute necrotizing encephalomyopathy Leia

About the disease was first mentioned in 1951. To date, more than 120 cases have been described. Lei's disease (OMIM 256000) is a genetically heterogeneous disease that can be inherited both by nuclear type (autosomal recessive or linked to the X chromosome) and mitochondrial (less often).

Mitochondrial DNA multiple deletion syndrome: causes, symptoms, diagnosis, treatment

The syndrome of multiple deletions of mitochondrial DNA is inherited according to the laws of Mendel, more often in the autosomal dominant type.

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