AI Article Synopsis
- The SCO1 gene is crucial for mitochondrial function in energy metabolism, and mutations have been linked to several severe health issues, primarily affecting the brain, liver, and heart.
- Only three cases of SCO1 mutations have been documented, all showing significant symptoms like lactate acidosis and encephalopathy, but the new case described involves a different mutation (Gly106del) with a unique clinical presentation.
- The early diagnosis of this novel mutation was possible due to advancements in whole exome sequencing, allowing for timely prognosis and treatment decisions, although the patient ultimately passed away at one month old.
Article Abstract
The cytochrome C oxidase assembly protein SCO1 gene encodes a mitochondrial protein essential for the mammalian energy metabolism. Only three pedigrees of SCO1mutations have thus far been reported. They all presented with lactate acidosis and encephalopathy. Two had hepatopathy and hypotonia, and the other presented with intrauterine growth retardation and hypertrophic cardiomyopathy leading to cardiac failure. Mitochondrial disease may manifest in neonates, but early diagnosis has so far been difficult. Here, we present a novel mutation in the SCO1 gene: in-frame deletion (Gly106del)with a different phenotype without encephalopathy, hepatopathy, hypotonia, or cardiac involvement. Within the first 2 h the girl developed hypoglycemia and severe chronic lactate acidosis. Because of the improved technique in whole exome sequencing, an early diagnosis was made when the girl was only 9 days old, which enabled the prediction of prognosis as well as level of treatment. She died at 1 month of age.
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| http://dx.doi.org/10.1159/000499488 | DOI Listing |
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