Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
MONDO:0013111Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.
Also known as: acute infantile liver failure, LFIT, TRMU infantile liver failure, acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins, acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, infantile liver failure caused by mutation in TRMU, liver failure, infantile, transient, liver failure, transient infantile
22 clinical trials for this condition and its sub-types, 0 tagged with Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins itself.
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New DNA test could end years of uncertainty for mitochondrial disease patients
Diagnosis Not yet recruitingThis pilot study aims to develop a new digital PCR technique to more accurately diagnose mitochondrial diseases. Researchers will test the method on blood, urine, saliva, and muscle fiber samples from 4 patients. If validated, the technique could be faster and cheaper than curren…
Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Diagnosis
Last updated Jun 27, 2026 12:04 UTC
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Liver function and drug dosing: a closer look at ulonivirine
Knowledge-focused Not yet recruitingThis study investigates how a single dose of the drug ulonivirine is processed by the body in people with mild or moderate liver impairment compared to healthy volunteers. Researchers measure drug levels in the blood over time to see if liver function affects how the drug is brok…
Phase 1 • Sponsor: Merck Sharp & Dohme LLC • Aim: Knowledge-focused
Last updated Jul 18, 2026 00:00 UTC