Introduction: This study is part of the “European network and registry for intoxication type
metabolic diseases”(E-IMD) project. Intoxication-type inborn errors of metabolism (IT-IEM) …

Historically, in the early 1900s,“Inborn Errors of Metabolism”(IEM) was coined by Sir
Archibald Garrod after his understanding of Alkaptonuria to be a result of “alternative course …

Urea cycle disorders (UCD) are rare inherited metabolic disorders caused by deficiencies of
enzymes and transporters required to convert neurotoxic ammonia into urea. These …

Background Urea cycle disorders (UCD) are inborn errors of metabolism, typically
presenting neonatally. Excess ammonia builds rapidly within the body risking …

Zellweger spectrum disorders (ZSDs) are rare, debilitating genetic diseases of peroxisome
biogenesis that require constant management and lifelong care. Nevertheless, the …

Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare metabolic disorder,
and commonly now part of newborn screening programs. Those diagnosed at birth are now …

Abstract Background and Objective Children with inherited metabolic diseases often require
complex and highly specialized care. Patient and family-centered care can improve health …

Single large‐scale mitochondrial deletion syndromes (SLSMDS) are ultra‐rare, progressive
multi‐system diseases that make children largely dependent on their caregivers for both …

Abstract In the United States, 41% of small retail businesses fail to succeed for longer than 5
years. The purpose of this multiple case study was to explore strategies small retail business …

Objectives: Research examining sibling caregiving contributions to medically complex
pediatric patients, including those with inborn errors of metabolism (IEMs), is limited. We …