Dietary management and growth outcomes in children with propionic acidemia: A natural history study
نویسندگان
چکیده
منابع مشابه
Natural history of propionic acidemia.
Propionic acidemia is an organic acidemia that can lead to metabolic acidosis, coma and death, if not treated appropriately in the acute setting. Recent advancements in treatment have allowed patients with propionic acidemia to live beyond the neonatal period and acute presentation. The natural history of the disease is just beginning to be elucidated as individuals reach older ages. Recent stu...
متن کاملAcute management of propionic acidemia.
Propionic acidemia or aciduria is an intoxication-type disorder of organic metabolism. Patients deteriorate in times of increased metabolic demand and subsequent catabolism. Metabolic decompensation can manifest with lethargy, vomiting, coma and death if not appropriately treated. On January 28-30, 2011 in Washington, D.C., Children's National Medical Center hosted a group of clinicians, scient...
متن کاملEmerging trends in management of propionic acidemia.
OBJETIVO To evaluate the therapeutic agents used during metabolic crises and in long-term management of patients with propionic acidemia (PA). MATERIALS AND METHODS The records of PA patients were retrospectively evaluated. RESULTS The study group consisted of 30 patients with 141 admissions. During metabolic crises, hyperammonemia was found in 130 (92%) admissions and almost all patients w...
متن کاملDietary practices in propionic acidemia: A European survey
BACKGROUND The definitive dietary management of propionic acidaemia (PA) is unknown although natural protein restriction with adequate energy provision is of key importance. AIM To describe European dietary practices in the management of patients with PA prior to the publication of the European PA guidelines. METHODS This was a cross-sectional survey consisting of 27 questions about the die...
متن کاملOptic neuropathy in methylmalonic acidemia and propionic acidemia.
BACKGROUND Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. Optic neuropathy (ON) has been increasingly recognised in both conditions, mostly through isolated case reports or small cases series. We here report the clinical feat...
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ژورنال
عنوان ژورنال: JIMD Reports
سال: 2021
ISSN: 2192-8312,2192-8312
DOI: 10.1002/jmd2.12234