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2 patient data entries collated from reference Lutz et al, 2009. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 284 | K1191R1
| T251I
P587L2
| Presented with feeding difficulties and hypotonia, At 4.5 months of age the patient contracted an influenza A infection. Concurrently she experienced hepatomegaly associated with severe hypoglycemia, Abnormalities in liver synthetic function, elevations in liver hepatocellular enzymes, elevated cerebrospinal fluid (CSF) protein, severely reduced mtDNA (3%) in liver. liver failure. She showed signs of ongoing respiratory difficulty, pancreatitis, and renal tubulopathy | | | 0.416 | 0.166 | 0.458 | | 285 | Splice site
mutation:
c.2157+5_6GC>AG
| A467T2
| speech and motor delay at 1.5 yr, seizure that included eye deviation, jaw clenching, and hypotonia of the trunk and extremities. He experienced repetitive generalized tonic-clonic seizures that evolved into refractory status epilepticus, severe encephalopathy characterized by choreo-athetoid movements, corticovisual impairment, diffuse hypotonia, and severe swallowing dysfunction, elevated plasma lactate, CSF lactate and protein were both elevated, Liver transaminases remained mildly elevated. dysphagia. | | | n/a | 1.5 | n/a |
1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.
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