Article

Brain Biomarkers of Long-term Outcome of Neonatal Onset Urea Cycle Disorder

2016-08-09

Abstract excerpt

Urea cycle disorders (UCDs) are common inborn errors of metabolism, with an incidence of one in 30,000 births. They are caused by deficiencies in any of six enzymes and two carrier proteins, the most common being Ornithine Transcarbamylase Deficiency (OTCD). OTCD results in impairment to excrete nitrogen, causing toxic buildup of ammonia with resultant encephalopathy. Hyperammonemia (HA) induces the conversion of...

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Literature Corpus work: 33018f5f-e467-5e25-bbe1-12c712c1973a
DOI: 10.20944/preprints201608.0094.v1

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