In 2012, we published guidelines summarizing and evaluating late 2011 evidence for
diagnosis and therapy of urea cycle disorders (UCDs). With 1: 35 000 estimated incidence …

Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis
due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one …

What are the social consequences of the recent expansion of newborn screening in the
United States? The adoption of new screening technologies has generated diagnostic …

It has been close to six decades since Watson and Crick discovered the structure of DNA
and more than ten years since the human genome was decoded. Today, through the …

Newborn screening (NBS) is one of the most effective measures of secondary prevention.
While the benefit of NBS on the clinical long‐term outcomes of children with inherited …

Background We sought to understand the experiences of parents/caregivers of children with
inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and …

Phenylketonuria (PKU) is a rare inherited metabolic disorder which can cause neurological
damage if left untreated. PKU is identified through newborn screening in developed …

Acute intoxication‐type inborn errors of metabolism (IT‐IEM) such as urea cycle disorders
and non‐acute IT‐IEM such as phenylketonuria have a major impact on paediatric patients' …

Introduction The development in therapeutic strategies has increased survival of children
affected by inborn errors of metabolism with restricted diet (IEMRD). These diseases have …

Abstract Organic acidurias (OAs), urea‐cycle disorders (UCDs), and maple syrup urine
disease (MSUD) belong to the category of intoxication‐type inborn errors of metabolism (IT …