Kiểu hình và kết quả điều trị bệnh rối loạn chuyển hóa axit hữu cơ propionic máu

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Tác giả: Phương Thảo Bùi, Thị Bích Ngọc Cấn, Thị Khánh Dung Khu, Ngọc Khánh Nguyễn, Thanh Liêm Nguyễn, Thị Hoài Nguyễn, Yamaguchi Seiji, Chí Dũng Vũ

Ngôn ngữ: vie

Ký hiệu phân loại: 610 Medicine and health

Thông tin xuất bản: Y học việt nam, 2012

Mô tả vật lý: 194-198

Bộ sưu tập: Metadata

ID: 482693

Propionic acidemia (PPA) is an autosomal recessive metabolic disease resulting from a deficiency of propionyl CoA. carboxylase activity. Objective: To describle clinical features and laboratory finding of patients with PPA and to evaluate outcome of management. Subjects and methods: This is a case series report. Clinical features, biochemical finding and management outcome of 8 Vietnamese cases from 8 unrelated families were study. GS/MS and Tandem mass were performed in Shimane University - Japan. Rerults: 4/8 families had more than 2 affected children. 6/8 cases had acute metabolic decompensation with onset age 1 year, among them 4/8 cases had clinical symptoms in neonatal period. Clinical manifestations of the acute episodes were lethagy/coma (7/8), convulsion (6/8), hypotonia (6/8), dehydration due to vommiting (5/8). In acute episodes, laboratory findings showed metabolic acidosis (7/8), hyperamonemia (7/8), thrompenia (6/8) and neutropenia (5/8) ketouria (4/6). There were poor prognosis in patients with PPA: 5/8 cases died during acute episodes, median age of death were 9.9 months (min 16 days - max 28 months). Among them, 4 cases died in the neonatal period. 3 case has motor and mental retardation. Conclusions: Propionic acidemia is an organic acidemia known to bring about a syndrome of ketoacidosis, lethargy/coma, convulsion, hypotonia and vomiting, to present in the newborn period. This disorder results in neurological impairment or death, if not properly controlled. It is important to perform screening for high risk infants, newborn screening and early diagnosis to reduce mortality and neurologic consequence of patients with PPA.
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