Objectives To determine the incidence and types of inborn errors of metabolism (IEMs) in
high-risk children using mass spectrometry techniques. Methods Children considered high …

Background Inborn errors of metabolism are genetically inherited diseases which can lead
to accumulation of toxic metabolites in the body. Inborn errors of metabolism have a high …

Objective Metabolic disorders, which involve many different organs, can be ascribed to
enzyme deficiency or dysfunction and manifest with a wide range of clinical symptoms. This …

Background: Inborn errors of metabolism (IEM) are individually rare but collectively account
for a significant proportion of illnesses. Newborn screening for IEM helps early diagnosis …

Background Inborn errors of metabolism (IEM) are genetic disorders caused by
incompetence in enzymatic reactions of intermediary metabolism due to an insufficient …

Background Citrullinemia type 1 is an autosomal recessive disease resulting in ammonia
accumulation in the blood, and if uncontrolled may progress to coma or death in the early …

Background: Inborn Errors of Metabolism (IEMs) are a group of heterogeneous disorders
resulting from absent or decreased metabolic pathway activity. They are typically rare, but …

Aim: This research is part of a larger study of inherited metabolic disorders to characterize
and measure the prevalence of aminoacidopathies. Settings and Design: Cross-sectional …