Open AccessMethylmalonic acidemia in Pediatrics: case report
Author(s) -
Catherine Colombiano,
Rafael Cardoso Sampaio,
Antônio Oliveira Filho,
Rachel Santos,
Gustavo Carreiro Pinasco,
Katia Manhabusque,
Vinícius Batista Santos
Publication year - 2020
Publication title -
residência pediátrica
Language(s) - English
Resource type - Journals
ISSN - 2236-6814
DOI - 10.25060/residpediatr-2020.v10n3-101
Subject(s) - methylmalonic acidemia , pediatrics , methylmalonic acid , medicine , hypotonia , methylmalonic aciduria , propionic acidemia , vomiting , newborn screening , intensive care medicine , vitamin b12
Methylmalonic acidemia was first described in 1967 and represents an autosomal recessive disease originating from a disorder of propionate metabolism. Although rare, it is one of the most frequent inborn errors of organic acid metabolism. The disease can manifest itself in the first days of life or have late onset in childhood. The therapy is based on protein restriction and carnitine supplementation. The present study reports a case of an infant who was seen at the hospitals emergency room with vomiting, dehydration, fever, adynamia, hyporexia, hypotonia and hyporesponsiveness, and developmental delay. Started research for methylmalonic acidemia and confirmed diagnosis through laboratory tests. Therefore, it is important to have studies and research on rare genetic diseases so that medical professionals can update, diagnose and seek early treatment for such patients.