Objective:to evaluate the clinical long termuse of carglumic acid in cases of propionic and
methylmalonic acidemia
Materials and Methods:13 patients diagnosed as PA, MMA at children hospital who are less than 2
years of age with no or minimal brain damage started on carglumic acid 50mg/kg/d divided 12h for
at least 3 months were included in this study. Information’s were gathered from their medical files
at Metabolic OPD during their regular visits and from medical files at paediatric/ ICU admissions if
they encountered an acute crisis. Growth parameters, developmental assessment and frequency of
admission due to crisis after treatment initiation were studied. In acute decomposition mean
ammonia level, biochemical and haematological parameters and mean hospital stay were also
observed.
Results: 13 patients included in this study 8 propionic acidemia and 5 methylmallonic acidemia,
started on Carglumic acid 50mg/kg/d for a period 3 to 9 months, 3 patients were admitted with
metabolic decompensation, with average 2 days hospitalization. Conclusion: obvious decrease in
no. Of hospitalizations due to metabolic decompensation as well as decrease in duration of hospital
stay was noted in treated patients,Carglumic acid is well tolerated with no obvious side effects.
Key words: Carglumic acid, propionic acidemia, methylmalonic acidemia