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Related Experiment Video

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Unilateral Ureteral Obstruction Model for Investigating Kidney Interstitial Fibrosis
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A longitudinal study of urea cycle disorders.

Mark L Batshaw1, Mendel Tuchman1, Marshall Summar1

  • 1Children's Research Institute, Children's National Health System, 111 Michigan Ave. NW, Washington, DC 20010, USA; Department of Pediatrics, George Washington University School of Medicine and Health Sciences, USA.

Molecular Genetics and Metabolism
|August 20, 2014
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Summary

Urea cycle disorders (UCDs) affect 1 in 35,000 people, often appearing after birth. This study highlights key UCDs, treatment impacts, and risks, improving understanding of these rare genetic conditions.

Keywords:
AmmoniaArgininosuccinate lyaseHyperammonemiaLongitudinal studyOrnithine transcarbamylaseUrea cycle

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • The Urea Cycle Disorders Consortium (UCDC) is a network of 14 sites studying 8 urea cycle disorders (UCDs).
  • UCDs are rare genetic conditions affecting ammonia metabolism.
  • The UCDC has enrolled 614 patients since 2006.

Purpose of the Study:

  • To analyze data from a longitudinal study of 614 patients with UCDs.
  • To determine the prevalence, clinical presentation, and outcomes of UCDs.
  • To identify biomarkers and treatment effects in UCD patients.

Main Methods:

  • Data mining of a longitudinal study protocol involving 614 UCD patients.
  • Analysis of prevalence, onset, mortality, precipitants, biomarkers, and treatment outcomes.
  • Focus on ornithine transcarbamylase deficiency, the most common UCD.

Main Results:

  • Overall UCD prevalence is 1/35,000; 2/3rds present after the newborn period.
  • Mortality rates are 24% (neonatal onset) and 11% (late onset).
  • Infections precipitate hyperammonemia; ammonia/glutamine may predict neurocognitive outcomes. Low protein diets affect growth, while phenylbutyrate impacts amino acids. Ornithine transcarbamylase deficiency carries a high risk of hepatic dysfunction.

Conclusions:

  • Collaborative natural history studies enhance understanding of rare genetic disorders like UCDs.
  • Identifying UCD precipitants and biomarkers aids clinical management.
  • Findings reveal specific risks and treatment effects, particularly for ornithine transcarbamylase deficiency.