Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia
Joint Authors
Kido, Jun
Matsumoto, Shirou
Nakamura, Kimitoshi
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-03-09
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Propionic acidemia (PA) is manifested as an abnormal accumulation of propionic acid and its metabolites, including methylcitrate, 3-hydroxypropionic acid, and propionylglycine, and is caused by a defect of propionyl-CoA carboxylase.
PA is complicated by acute life-threatening metabolic crises, which are precipitated by a catabolic state and result in multiple organ failure or even death, if untreated.
A neonate with PA recovered from the first metabolic crisis 3 days after birth but developed a second metabolic crisis during the recovery phase.
This patient was considered to have severe PA and was accordingly given carglumic acid treatment in combination with carnitine supplementation and protein restriction, which was expected to prevent a recurrent metabolic attack.
The patient did not develop hyperammonemia after receiving carglumic acid and was never hospitalized.
Moreover, she did not present with acidosis even during viral infection.
At 26 months of age, she led a stable life while receiving carglumic acid and regular rehabilitation.
Carglumic acid treatment in combination with carnitine supplementation and protein restriction prevented metabolic decompensation, which would have otherwise required hospitalization, and resulted in improved quality of life and developmental outcomes.
American Psychological Association (APA)
Kido, Jun& Matsumoto, Shirou& Nakamura, Kimitoshi. 2020. Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia. Case Reports in Pediatrics،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1150633
Modern Language Association (MLA)
Kido, Jun…[et al.]. Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia. Case Reports in Pediatrics No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1150633
American Medical Association (AMA)
Kido, Jun& Matsumoto, Shirou& Nakamura, Kimitoshi. Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia. Case Reports in Pediatrics. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1150633
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1150633