Background Chronic liver diseases (CLD) in children represent a growing health problem with significant morbidity and mortality. This study aimed to define the clinicopathological pattern of pediatric CLD in Sohag University Hospital, Sohag,Upper Egypt. Materials and Methods A total of 151children with CLD were included in a prospective hospital-based study from June 2014 to May 2018. Cases of...

Amino acid (AA) analysis in plasma is essential for diagnosis and monitoring of inborn errors metabolism (IEM). The efficacy patient management governed by the rapidity AA profile availability, along with robustness method. French quality guidelines progress made analytical techniques have led biologists to develop exploration via mass spectrometry (MS). aim this study was validate an method a ...

Objective(s):Phenylketonuria (PKU) is a genetic inborn error of phenylalanine (Phe) metabolism resulting from insufficiency in the hepatic enzyme, phenylalanine hydroxylase (PAH), which leads to elevated levels of Phe in the blood. The present study was carried out for mutation analysis of the PAH gene in West Azerbaijan province of Iran. Materials and Methods:A total of 218 alleles from 40 PKU...

inborn errors of amino-acids metabolism and other inherited mendeliandisorders are common in the middleeast. the number of diagnosed inborn errors of amino acid metabolism is growing constantly on account of and availability and improved of analytical techniques.  the aim of this work was to determine a rough estimate of the incidence rates of phenylketonuria (pku), tyrosinemia, and maple syrup...

The problem under discussion is best described by an illustrative example. A woman was referred for advice and management midway through her fourth pregnancy. She had one healthy son, her third born. Her first two babies (1 male, 1 female) had both died on the third day of life. Each had seemed normal at birth, but had become drowsy on the second day and then unconscious. She had already decide...

Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited. If intolerance to carbohydrates is a frequent finding in children, inborn errors of carbohydrate metabolism are rare conditions. Three inborn errors are known in the pathway of fructose metabolis...

Because of their prevalence, severity and lack of effective treatments, inborn errors of metabolism need novel and more effective therapeutic approaches. The opportunity for an early treatment coming from expanded newborn screening has made this need even more urgent. To meet this demand, a growing number of novel treatments are entering in the phase of clinical development. Strategies to overc...

Background: Inborn metabolic disorders (IMDs) form a large group of rare, but often serious, metabolic disorders. Aims: Our objective was to construct a decision tree, based on classification algorithm for the data on three metabolic disorders, enabling us to take decisions on the screening and clinical diagnosis of a patient. Settings and Design: A non-incremental concept learning classificati...

Case presentation: EMS, 5 years old, 1st child of a non-consanguineous couple, with no relevant antecedents, have started neuropsychomotor development regression at 2 old. The parents noticed slower speech, in addition to bad concentration. At the first appointment tertiary pediatric neurology service city São Paulo, patient had lowered cognitive level for his age, bradylalia and dysarthria. He...