نتایج جستجو برای: urea cycle disorders
تعداد نتایج: 967162 فیلتر نتایج به سال:
Background • Therapies for rare diseases have ignited industry-wide debates concerning patient access, pricing and efficacy. Urea cycle disorders (UCD), a genetic rare disease, is a target for enzyme replacement therapies, yet UCD epidemiology data are scarce. For payers and pharmaceutical companies to accurately forecast patient cost of care, accurate patient population estimates are a necessi...
Derrick MacFabe’s hypothesis that propionic acid generated by gut bacteria induces autism [1], while compelling, leaves one question largely unanswered: Why do children with inborn propionic acidemia rarely show autistic behavior? Although exacerbations of Propionic Acidemia (PA) bear “some resemblance” to autism spectrum disorders (ASD), MacFabe noted, only one case of autism associated with P...
The underlying pathophysiology of liver dysfunction in urea cycle disorders (UCDs) is still largely elusive. There is some evidence that the accumulation of urea cycle (UC) intermediates are toxic for hepatocyte mitochondria. It is possible that liver injury is directly caused by the toxicity of ammonia. The rarity of UCDs, the lack of checking of iron level in these patients, superficial knowl...
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
BACKGROUND Advances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. The purpose of this study is to describe the characteristics of patients with urea cycle disorders in Spain. METHODS Observational, cross-sectional and multicenter study. Clinical, biochemical and genetic data were collected from patients with UCDs, treated in the metabolic di...
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 activating enzyme and one mitochondrial ornithine/citrulline antiporter) with an estimated incidence of 1:8.000. Patients present with hyperammonemia either shortly after birth (~50%) or, later at any age, leading ...
BACKGROUND Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxification. In about half of patients presenting with a UCD, the first symptoms appear within a few days after birth. These neonatal onset patients generally have a severe defect of urea cycle function and their survival and outcome prognoses are often limited. To understand better the current situation o...
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