Work

Maternally-inherited diabetes with deafness (MIDD) and hyporeninemic hypoaldosteronism

Year: 2012

Type: article

Abstract: Maternally-inherited diabetes with deafness (MIDD) is a rare form of monogenic diabetes that results, in most cases, from an A-to-G transition at position 3243 of mitochondrial DNA (m.3243A>G) in the mitochondrial-encoded tRNA leucine (UUA/G) gene. As the name suggests, this condition is characterized by maternally-inherited diabetes and bilateral neurosensory hearing impairment. A characteristic of mitochondrial cytopathies is the progressive multisystemic involvement with the development of more symptoms during the course of the disease. We report here the case of a patient with MIDD who developed hyporeninemic hypoaldosteronism.

Source: Arquivos Brasileiros de Endocrinologia & Metabologia

DOI: 10.1590/s0004-27302012000800019

Authors: Patricia B. Mory, Marcia C. dos Santos, Claudio E. Kater, Regina S. Moisés

Institution: Universidade Federal de São Paulo

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W2035774841

FWCI: 0.105

Cites: 29

Cited by: 12

Related to: 10