Severe anemia, malnutrition, hypotonia and aggravation of the conscious disturbance, methyl malonic acidemia or propionic acidemia? / 中华实用儿科临床杂志

ABSTRACT

The patient was a 21 days-old baby girl,admitted to Guangdong Women and Children Hospital because of "poor intake,seldom crying and no activity in 1 day".The major clinical manifestations included hypotonia,aggravation of the conscious disturbance,pancytopenia,intractable acidosis and hyperammonemia,so,inherited metabolic disorders should be considered.Screening of inherited metabolic diseases with blood and urine samples,genetic test and active treatments were carried out.After targeted next-generation sequencing,a novel homozygotic frame shift mutation in PCCB genec.838_839insC (L280Pfs * 11) was identified,which was validated by Sanger sequencing.This mutation had not been reported in the mutation database,and bioinformatic analysis of this mutation indicated disease-causing.So,the diagnosis of propionic acidemia was identified.The baby was in a critical condition,and despite active treatment,her conscious disturbance was aggravated,and the spontaneous breathing disappeared.Subsequently,the baby died of pneumonia.Propionic acidemia is a relatively common genetic metabolic disease in newborns.The severity and the clinical phenotypes of propionic acidemia varied,which often made the diagnosis difficult.When the baby is presented with developmental delay,hypotonia,recurrent convulsion and vomiting,etc,which can't be explained by common diseases of children,propionic acidemia may be considered.Next generation sequencing analysis of the complicated cases can easily to pinpoint a disease-causing gene,which lays a solid foundation for accurate diagnosis and treatment of the patients.