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KMID : 0918520160160010052
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Journal of the Korean Society of Inherited Metabolic Disease
2016 Volume.16 No. 1 p.52 ~ p.56
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A Patient with Propionic Acidemia with a Novel mutation who was Successfully Managed by Home Care-Based Fluid Therapy
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Yang A-Ram
Nam Soon-Young
Kim Jin-Sup
Kim Hyun-Young
Park Hyung-Doo
Jin Dong-Kyu
Cho Sung-Yoon
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Abstract
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Propionic acidemia (PA) is a rare autosomal recessive metabolic disease caused by the deficiency of propionyl-CoA carboxylase (PCC). PA affects the catabolism of branched chain amino acid and oddchain fatty acid then results in accumulation of propionic acid and other metabolites in plasma and urine. Catabolic stress such as infection, illness or any stress can precipitate cause acute metabolic decompensation, especially in the first years of life. Acute metabolic decompensation commonly calls for emergency treatment or admission and if the patient is in a serious condition, it can lead to coma or death. But frequent admissions or visiting the emergency room are much burden to the patients and
their kins. And we experienced the propionic academia with a confirmed novel mutation and the patient suffered from frequent admission and visiting the emergency room. So, we tried the regular home carebased fluid therapy after securing a central venous line. Finally, we succeeded in preventing frequent admissions resulted from acute metabolic decompensation and could contribute to relieving the burden to the patient and their family.
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KEYWORD
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Propionic acidemia, Mutation, Fluid therapy, Home care services
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