Diseases of children (pediatrics)

Mitochondrial diseases due to impaired beta fatty acid oxidation

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

Mitochondrial diseases due to disorders of the Krebs cycle

The main representatives of this group of diseases are mainly associated with a 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 defect in mitochondrial DNA are approximately 1:8000.

Mitochondrial diseases due to impaired pyruvate metabolism

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

Menkes trichopolydystrophy

Menkes trichopolydystrophy (kinky hair disease, OMIM 309400) was first described by JH Menkes in 1962. The incidence of the disease is 1:114,000-1:250,000 newborns. It is inherited in an X-linked recessive manner.

Wolfram syndrome: causes, symptoms, diagnosis, treatment

Wolfram syndrome (DIDMOAD syndrome - Diabetes Insipidus, Diabetes Mettitus, Optic Atrophy, Deafness, OMIM 598500) was first described by DJ Wolfram and H.P. WagenerB in 1938 as a combination of juvenile diabetes mellitus and optic atrophy, which was subsequently supplemented by diabetes insipidus and hearing loss. To date, about 200 cases of this disease have been described.

Progressive sclerosing polyodystrophy of Alpers

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

Leah's subacute necrotizing encephalomyopathy

The disease was first mentioned in 1951. To date, more than 120 cases have been described. Leigh disease (OMIM 256000) is a genetically heterogeneous disease that can be inherited either nuclearly (autosomal recessively or X-linked) or mitochondrially (less common).

Multiple mitochondrial DNA deletion syndrome: causes, symptoms, diagnosis, treatment

Multiple mitochondrial DNA deletion syndrome is inherited according to Mendel's laws, most often in an autosomal dominant manner.

Leber syndrome: causes, symptoms, diagnosis, treatment

Leber's syndrome (LHON syndrome - Leber's Hereditary Optic Neuropathy), or hereditary atrophy of the optic nerves, was described by T. Leber in 1871.