Expert consensus on screening and diagnosis and treatment of propionic academia
Neonatal Screening Group of the Birth Defect Prevention and Control Professional Committee of the Chinese Preventive Medicine Association
Adolescent Health and Medical Professional Committee of the Chinese Medical Doctor Association
Genetic and Metabolic Disease Group of the Child Disease and Health Branch of the China Maternal and Child Health Association
HAN Lian-shu
YANG Yan-ling
YANG Ru-lai
ZOU Hui
WANG Qiao
MIAO Jing-kun
XU Liang-pu
CHEN Rui-min
LU Wei
JIANG Jian-hui
FAN Yun
LUO Jing-si
HUANG Yong-lan
CUI Lan-wei
YANG Su-hong
WEI Hai-yan
WANG Wei-peng
WANG Hua
LIANG Yan
LUO Xiao-ping
WANG Jie
LI Gui-mei
LV Yong-fen
TIAN Guo-li
GU Xue-fan
LIANG Li-li
QIU Wen-juan
ZHANG Hui-wen
WEN Wei
CAO Bing-yan
GONG Chun-xiu
KONG Yuan-yuan
YU Dan
OUYANG Cai
WANG Zhi-hua
QIANG Rong
ZHOU Yu-lin
ZHANG Yin-hong
ZHU Bao-sheng
FU Jun-fen
HUANG Xin-wen
ZHAO Zheng-yan
Abstract：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.
Keywords：propionic acidemianewborn screeningorganic acidemiadiagnosistreatment
Publication Date：2024-04-06
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：8( 241-248 )