Propionic Acidemia - Case Report With Fatal Outcome
Journal Title: Macedonian Journal of Medical Sciences (MJMS) - Year 2009, Vol 2, Issue 2
Abstract
Propionic acidemia is an inborn error of metabolism due to defective enzyme, propionyl-coenzyme A (CoA) carboxylase, which results in an accumulation of propionic acid. In this report we describe a 13 month old male infant who presented with protracted vomiting, psychomotoric delay and normochloremic acidosis. Metabolic decompensation resulted in multiorgan failure-severe anemia, osteopenia, cardiomyopathy, humoral immunodeficiency and coma. The diagnosis was established on the basis of elevated urinary concentration of 3 OH propionic acid. Thus in all children with normochloremic acidosis, neurodevelopmental delay and vomiting one should raise suspicion for organic acidemia. Urinary organic profile should be investigated immediately in order to establish correct diagnosis and administer appropriate treatment.
Authors and Affiliations
Aspazija Sofijanova| Clinic for Childrens Diseases, Faculty of Medicine, University “Ss Kiril and Metodij”, Skopje, Republic of Macedonia, Vesna Sabolich-Avramovska| Clinic for Childrens Diseases, Faculty of Medicine, University “Ss Kiril and Metodij”, Skopje, Republic of Macedonia, Sonja Bojadzieva| Clinic for Childrens Diseases, Faculty of Medicine, University “Ss Kiril and Metodij”, Skopje, Republic of Macedonia, Svetlana Krstevska| Clinic for Childrens Diseases, Faculty of Medicine, University “Ss Kiril and Metodij”, Skopje, Republic of Macedonia, Miljana Tolovska| Institute of Pathology, Faculty of Medicine, University “Ss Kiril and Metodij”, Skopje, Republic of Macedonia, Velibor Tasic| Clinic for Childrens Diseases, Faculty of Medicine, University “Ss Kiril and Metodij”, Skopje, Republic of Macedonia, Aco Kostovski| Clinic for Childrens Diseases, Faculty of Medicine, University “Ss Kiril and Metodij”, Skopje, Republic of Macedonia
Keywords
Related Articles
- EP ID EP8690
- DOI 10.3889/MJMS.1857-5773.2009.0044
- Views 332
- Downloads 18
Quantitative Assessment of Postural Stability and Balance Between Persons with Lower Limb Amputation and Normal Subjects by using Dynamic Posturography
Background. The amputation of lower limb constitutes a major handicap which involves a functional and professional incapacity. Balance has been reported to be a better predictor of an individual’s engagement in physi...
Cutaneous Manifestations of Brucellosis
Aim. To present and compare 10-year clinical experience of human brucellosis in Republic of Macedonia with data presented in the literature about the frequency of cutaneous manifestations of brucellosis. To estimate th...
Dynamic Screw Systems without Image Intensifier: Early Observations in Eight Consecutive Patients
Dynamic Screw Systems are useful in proximal and distal femoral fractures, and convey advantages over fixed angle devices. Improved proximal fragment fixation, controlled fracture impaction and a “forgiveness†with...
Macedonian Medical Doctor of Philosophy (PhD) Theses Defended in 2008
We present abstracts of PhD theses defended in 2008 at the Faculty of Medicine, University “Ss Kiril and Metodijâ€, Skopje, Republic of Macedonia. English summaries are published as they are translated by authors an...
Analysis of Macedonian Medical Scientific Papers in the Scopus Database
Aim: The aim of this study was to analyze medical scientific papers in the Republic of Macedonia indexed in the Scopus database. Material and Methods: A search of the Scopus database was performed on February 23, 2013...