Background In recent decades, considerable progress in diagnosis and treatment of patients
with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders …

Metabolic disorders can appear to be a frustratingly complex group of disorders to master.
Many individual disorders have clinical presentations that initially seem very similar to one …

Purpose: The aim of this study was to describe the methods, cases, and initial results of a
pilot project using existing public health data collection programs (birth defect surveillance …

Background Intellectual developmental disorders (IDD 1), characterized by a significant
impairment in cognitive function and behavior, affect 2.5% of the population and are …

Background: Inborn errors of metabolism (IEM) are mostly transmitted as autosomal
recessive disorders and are therefore more frequent in countries with high consanguinity …

Inherited metabolic disorders (IMDs) are a heterogeneous group of rare disorders
characterized by disruption of metabolic pathways. To date, data on incidence and …

Inborn errors of metabolism have traditionally been viewed as the quintessential single gene
disorders; defects in one gene leads to loss of activity of one enzyme causing a metabolic …

Inborn errors of metabolism (IEM) present a unique challenge to the emergency medicine
physician. IEM represents a large number of individual illnesses each with their own specific …

Inborn errors of metabolism (IEMs) are characterized by deficits in metabolic enzymes as a
result of an inherited disease, leading to the accumulation or decreased excretion of …

The field of inherited metabolic diseases has changed from a limited group of rare,
untreatable, often fatal disorders to an important cause of acutely lifethreatening and/or …