Blood Gases, Plasma Ammonia Levels and Urine Analysis; a Potential for Early Detection of Some Inborn Errors of Metabolism
Journal Title: International Journal of Biochemistry Research & Review - Year 2016, Vol 15, Issue 4
Abstract
Aims: Inborn errors of metabolism (IEM) constitute a group of inherited disorders that cause significant morbidity and mortality. This diverse group of diseases present with different clinical manifestations that make the diagnosis a real challenge. The current work aimed to investigate the potential of some preliminary laboratory tests such as blood gases, plasma ammonia levels and urine analysis as rapid and conventional biochemical markers for early diagnosis of young children with high suspicion of metabolic disorders. Methodology: The present study has been conducted on 50 patients suspected to have metabolic disorder according to the inclusion criteria selected from pediatric patients attending the pediatric, metabolic and neurological consultant clinics at the Pediatrics Department, Assiut university hospital, Egypt. In addition, to 20 healthy subjects were selected as the control group who had matched age and sex to the study group. All participants had their blood tested for complete blood count, gases, ammonia, electrolytes, urea, creatinine and glucose levels. Additionally, urine was tested for ketonuria, cysteinuria and fructosuria. Computed topography (CT) and cerebrospinal fluid (CSF) studies were also performed. Results: There was a significant higher percent of consanguineous marriage among the patients’ parents compared with the control group. Plasma ionized calcium, pO2 and ammonia levels were significantly higher (p ˂0.05), whilst, pCO2, pH and HCO3 were lower (p ˂0.05) in patients versus the control group. One case had ketonuria and hyperglycemia but died before completing the investigatory workup. CT brain revealed that 60% of the included pediatric patients had brain atrophic changes. The final diagnoses of patients suspected to have metabolic disorders were: 11 (22%) had septicemia; 21 (42%) died before complete the final diagnosis; 12 (24%) suspected to have urea cycle defect and 6 (12%) suspected to have organic acidemia. Conclusions: Blood gases, plasma ammonia levels and urine analysis are collectively simple and rapid laboratory tests that can give a preliminary indication for further investigations in pediatric patients with suspicious symptoms of metabolic disorders.
Authors and Affiliations
Tahia H. Saleem, Mohammed H. Hassan, Ghaleb Oriquat, Amal A. S. Soliman, Aliaa A. Youssef, Wesam G. Ammari
Keywords
Related Articles
- EP ID EP351219
- DOI 10.9734/IJBCRR/2016/31021
- Views 128
- Downloads 0
Study of Insulin Resistance in Polycystic Ovarian Syndrome
Aims: To evaluate Insulin resistance in patients with Polycystic ovarian syndrome (PCOS). To determine if HOMA & G:I can be used as a simple marker to identify PCOS patients at risk for IGT & Type II DM. Study Design: Th...
Minimizing Bioavailability of Fluoride through Addition of Calcium-magnesium Citrate or a Calcium and Magnesium-containing Vegetable to the Diets of Growing Rats
Introduction: Fluorosis is a public health problem in Ethiopia. Fluoride absorption may be decreased by dietary divalent cations which form insoluble complexes with the fluoride ion. Aim: This study aimed to assess the...
Adipocytokines, Receptor Activator of Nuclear Factor-κB Ligand, and Midkine: Intricate Biomarkers Network Involved in Pathogenesis and Activity of Rheumatoid Arthritis in Egyptians
Background: Rheumatoid arthritis (RA) is a common autoimmune disease in which a heterogeneous course and different pathogenic mechanisms are implicated in the development of chronic inflammation and subsequent joint dama...
Toxicity Assessment of Sub Lethal Doses of Chlorpyrifos on the Kidney and Liver Organs of Male Wistar Rats
Chlorpyrifos, an organophosphate pesticide is an important neurotoxic and tissue damage agent. It is one of the most heavily used pesticides in domestic and agricultural applications globally. Repeated doses of chlorpyri...
Comparative Evaluation of Nutritional Qualities of Nymphaea lotus and Nymphaea pubescens Seeds
Aims: The study was aimed at evaluating the nutritional qualities of Nymphaea lotus and Nymphaea pubescens seeds. Study Design: It was designed to determine the proximate and amino acids profiles of Nymphaea lotus and Ny...