Sudden death and critical complications caused by organic aciduria / 中国实用儿科杂志

ABSTRACT

Organic acidurias(OA)are a group of diseases that cause carboxylic acid accumulation due to some enzyme deficiencies in the metabolic process,and they are also one of the most common hereditary metabolic diseases. The clinical characteristics of this kind of disease lack specificity and acute attack can occur under some metabolic pressures,such as metabolic acidosis,hypoglycemia,hyperammonia,acute encephalopathy,and even sudden death. With the development of tandem mass spectrometry and gas phase mass spectrometry,and the prevalence of screening for genetic metabolic diseases in neonates,more and more OA have been discovered and enough attention has been paid to this disease by medical workers. The relationship between organic acid metabolic diseases with sudden death and critical illness was analyzed in this paper.