Abstract
BackgroundMethylmalonic acidemia (MMA) and propionic acidemia (PA) are two kinds of diseases caused by inborn errors of metabolism. So far, the epidemiological data on them are limited in China. The aim of our study is to investigate the proportion and characteristics of hospitalized pediatric patients with MMA and PA in China.MethodsThe data in this study were obtained from the Hospital Quality Monitoring System, a national inpatient database in China, with information on the patients hospitalized during the period from 2013 to 2017. We identified the data related to the patients who were under 18 years old and were diagnosed with MMA/PA, and extracted the information on demographic characteristics, hospital location, total cost and other related clinical presentations from the data.ResultsAmong all hospitalized pediatric patients with liver diseases, there were increasing trends in the proportion of individuals diagnosed with MMA or PA during the period from 2013 (0.76% for MMA; 0.13% for PA) to 2017 (1.61% for MMA; 0.32% for PA). For both MMA and PA, children under 2-year-old accounted for the highest proportion. The median of total cost per hospitalization was relatively high (RMB 7388.53 for MMA; RMB 4999.66 for PA). Moreover, most patients hospitalized in tertiary class A hospitals (MMA: 80.96%, PA: 76.21%); and a majority of pediatric patients admitted in the hospitals in Shanghai and Beijing are from outside districts. Manifestations of nervous system-related symptoms, and metabolic acidosis or anemia in laboratory findings were more common during hospitalization.ConclusionsThe study is the first nationwide one in providing epidemiological and clinical information on hospitalized pediatric patients with MMA/PA. An increasing hospitalization with various presentations and a heavy financial burden were observed. In addition, geographically, the medical resources in China have been unevenly distributed.
Highlights
Methylmalonic acidemia (MMA) (OMIM #251000, MMA mut type; OMIM #251100, MMA cblA type; OMIM #251110, MMA cblB type; OMIM #277410, MMA cblD-variant 2) and propionic acidemia (PA) (OMIM #606054), two diseases caused by inborn errors of metabolism, are the most common organic acidurias [1, 2]
The major characteristic of MMA and PA is the accumulation of toxic metabolites caused by disrupting the normal amino acid metabolism due to defects in enzyme methylmalonyl-CoA mutase (MMUT) or propionyl-CoA carboxylase (PCC) [3]
The group of infants under 1-year-old had the highest proportion in the hospitalized pediatric patients with MMA, and the children under 2-year-old accounted for 61.5 percentage of all hospitalizations with MMA
Summary
Methylmalonic acidemia (MMA) (OMIM #251000, MMA mut type; OMIM #251100, MMA cblA type; OMIM #251110, MMA cblB type; OMIM #277410, MMA cblD-variant 2) and propionic acidemia (PA) (OMIM #606054), two diseases caused by inborn errors of metabolism, are the most common organic acidurias [1, 2]. Patients with complete enzyme deficiency may present symptom in the first few days of life while late-onset cases at any age (mostly before 18) [1,2,3,4,5]. Methylmalonic acidemia (MMA) and propionic acidemia (PA) are two kinds of diseases caused by inborn errors of metabolism.
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