Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation
Joint Authors
Mobarak, Amira
Dawoud, Heba
Mokhtar, Wesam A.
Sadek, Abdelrahim A.
Bebars, Gihan Mohamed
Othman, Amr Ahmed
Magdy, Rofaida M.
Nofal, Hanaa
Zoair, Amr
Source
International Journal of Pediatrics
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-11-21
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
PA and MAA have numerous nonspecific presentations, potentially leading to delayed diagnosis or misdiagnosis.
In this paper, we present the clinical and biochemical characteristics of MMA and PA patients at initial presentation.
Results.
This is a retrospective review of 20 patients with PA (n=10) and MMA (n=10).
The most observed symptoms were vomiting (85%) and refusing feeding (70%).
Ammonia was 108.75±9.3 μmol/l, showing a negative correlation with pH and bicarbonate and positive correlation with lactate and anion gap.
Peak ammonia did not correlate with age of onset (r=0.11 and p=0.64) or age at diagnosis (r=0.39 and p=0.089), nor did pH (r=0.01, p=0.96; r=−0.25, p=0.28) or bicarbonate (r=0.07, p=0.76; r=−0.22, p=0.34).
There was no correlation between ammonia and C3 : C2 (r=0.1 and p=0.96) or C3 (r=0.23 and p=0.32).
The glycine was 386±167.1 μmol/l, and it was higher in PA (p=0.003).
There was a positive correlation between glycine and both pH (r=0.56 and p=0.01) and HCO3 (r=0.49 and p=0.026).
There was no correlation between glycine and ammonia (r=−0.435 and p=0.055) or lactate (r=0.32 and p=0.160).
Conclusion.
Clinical presentation of PA and MMA is nonspecific, though vomiting and refusing feeding are potential markers of decompensation.
Blood gas, lactate, and ammonia levels are also good predictors of decompensation, though increasing levels of glycine may not indicate metabolic instability.
American Psychological Association (APA)
Mobarak, Amira& Dawoud, Heba& Mokhtar, Wesam A.& Sadek, Abdelrahim A.& Bebars, Gihan Mohamed& Othman, Amr Ahmed…[et al.]. 2020. Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation. International Journal of Pediatrics،Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1173654
Modern Language Association (MLA)
Mobarak, Amira…[et al.]. Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation. International Journal of Pediatrics No. 2020 (2020), pp.1-7.
https://search.emarefa.net/detail/BIM-1173654
American Medical Association (AMA)
Mobarak, Amira& Dawoud, Heba& Mokhtar, Wesam A.& Sadek, Abdelrahim A.& Bebars, Gihan Mohamed& Othman, Amr Ahmed…[et al.]. Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation. International Journal of Pediatrics. 2020. Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1173654
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1173654