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Summary of TRMU Deficiency:
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Overview: TRMU deficiency is a rare genetic disorder affecting mitochondria, causing energy production issues. It primarily affects the liver, leading to symptoms like liver dysfunction, enzyme buildup, hepatomegaly (liver enlargement), lactic acidosis, hypoglycemia, hyperammonemia, poor weight gain, and hypotonia.
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Age of Onset: Symptoms typically appear in children between 2 to 4 months.
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Neurological and Cardiac Symptoms: Children over four months may develop Leigh-like syndrome and cardiomyopathy, affecting the heart’s ability to pump blood.
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Cause & Inheritance: TRMU deficiency is caused by variants in the TRMU gene and is inherited in an autosomal recessive manner (both parents must pass on a disease-causing gene variant).
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Diagnosis: It is suspected in children over four months presenting with liver enlargement, poor weight gain, and lactic acid buildup. Early diagnosis is crucial as it allows for timely treatment before severe liver failure or other complications arise.
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Prognosis & Treatment: There is no cure, but early diagnosis can help manage symptoms and prevent acute episodes.
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