A 3-month-old male patient presented with vomiting, diarrhea and dysphagia. His parents were physiologically normal but

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A 3-month-old male patient presented with vomiting, diarrhea anddysphagia. His parents were physiologically normal but had a longhistory of multiple miscarriages. His older brother was healthy. Anechocardiogram indicated cardiomyopathy with an ejection fractionof 15% and left ventricular non-compaction. Lactate was 3.4(0.5-2.4 mmol/L). Pyruvate levels were 1.2 (0.3-0.7 mg/dl). On alater follow-up visit, he had a developmental delay suggestingabnormal brain development. At 11 months of age, he displayed majorcardiac deterioration. Muscle mass was decreased, general hypotoniawas evident along with dystonia and ataxia, and visual loss.Glucose, transaminases, blood counts, renal function and ammonialevels were normal. MRI showed multiple bilateral, symmetricalabnormal lesions in the basal ganglia, thalami and cerebralpeduncles—indicating the possibility of Leigh Syndrome. The patientwas given riboflavin and CoQ10. With consistently deterioratingheart and brain function, end-of-life care was given and he passedaway at 13 months of age. Post-mortem genetic testing confirmed thediagnosis of Leigh Syndrome and revealed a mutation in themitochondrial DNA (mtDNA 8993 T>G) which affects the ATPsynthase subunit 6 gene. ATP synthase subunit 6 gene encodes the Asubunit, a part of the stator. Within the stator subunit, at aminoacid position 156, a leucine is replaced with arginine. This meansthat this baby does not have a functional ATP synthase.
6. Explain how this mutation would indirectly affect fluxthrough the electron transport chain the citric acid cycle.
7. Explain why the patient has increased levels of pyruvate andlactate. What does this suggest about the rate of glycolysis?