丙酸血症筛查及诊治专家共识OA北大核心CSTPCD

Propionic acidemia is a rare disease.It is also a common organic acidemia.The clinical manifestations of the patients are nonspecific,including vomiting,lethargy,muscle weakness or convulsions during acute stage,and motor,language and intellectual retardation due to brain damage during the stable phase.Diagnosis of the disease is based on increased blood propionyl-carnitine,propionyl-carnitine to acetyl-carnitine ratio,urinary methylcitrate and mutation of PCCA or PCCB gene.Treatment of the disease is based on dietary therapy,L-carnitine and symptomatic management.Propionic acidemia can be detected by prenatal testing for the fetus of the family whose proband had definite diagnosis.In order to improve the strategy for the diagnosis and treatment of propionic acidemiaand achieve the Objective of early diagnosis,early treatment and better prognosis,the consensus was formulated by referring to relevant domestic and foreign literature and careful discussion by relevant domestic experts.