Ornithine carbamoyltransferase deficiency
MONDO:0010703Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.
Also known as: OCT deficiency, OTC deficiency, OTCD, ornithine carbamoyltransferase deficiency, ornithine carbamoyltransferase deficiency disease, ornithine transcarbamylase deficiency, ornithine transcarbamylase deficiency, hyperammonemia due to, valproate sensitivity
17 clinical trials for this condition and its sub-types.
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MS nerve damage unmasked: eye scans reveal hidden loss
Knowledge-focused CompletedThis study looked at how nerve cells in the eye are lost in people with multiple sclerosis (MS) even when there is no active inflammation. Researchers followed 64 adults with relapsing-remitting MS who were already part of a larger study. By using special eye scans over time, the…
Phase: NA • Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:33 UTC
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AI eye scan analysis could spot hidden eye disease changes
Knowledge-focused CompletedThis study tested whether a computer technique called radiomics can help analyze eye scans from people with vitelliform lesions, which are yellow deposits under the retina that can change over time. Researchers looked at 50 participants' OCT images to see if radiomics could disti…
Sponsor: Federico II University • Aim: Knowledge-focused
Last updated Jun 26, 2026 14:19 UTC