日本の新生児マススクリーニングで初めて発見されたプロピオン酸血症患児の療育に関する検討

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  • ニホン ノ シンセイジ マススクリーニング デ ハジメテ ハッケン サレタ プロピオンサン ケツショウ カンジ ノ リョウイク ニ カンスル ケントウ
  • The first case with propionic acidemia found in newborn screening by tandem mass spectrometry in Japan : clinical management during infancy

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The purpose of this study was to clarify the factors which influence the efficacy of treatment on a patient with propionic acidemia who was found in our pilot study of newborn screening by tandem mass spectrometry. The patient was classified into a milder form of this disorder based on the enzymological analysis. She was symptom-free until diagnosis at 26 days, and had no apparent developmental delay at 24 months of age. The patient was treated with carnitine and protein-restricted diet using a special formula for this disorder, which was supplemented with an strawberry flavor to improve the odor and taste and with tetrasaccharide to increase calories. The mother was trained to calculate the patient's intake of calories and protein, and the assessment of diet therapy was done using her daily records. When the patient could not have sufficient calories because of such diseases as gastroenteritis and other febrile illnesses, intravenous glucose infusions were done irrespective of the presence of ketosis. Nursing staff played an important role in the outpatient clinic in preventing infectious diseases and in judging the patient condition. The mother was encouraged to continue diet therapy in our clinic where the favorable course of patient's development was ascertained using a developmental scale. Our experiences indicated that early assessment of the mother's character and repeated confirmation of family members' understanding about the disease by nursing staff were important for successful treatment of the patient.

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