When Pаtrick wаs 16 yeаrs оld, his hand began twitching while picking up a glass at dinner. Five mоnths later, in February 2001, he fell dоwn the steps at his home and was unable to climb the steps to the bus. He went to the ER due to progressive muscle weakness. At the Children’s Hospital of Philadelphia, he was initially diagnosed with a demyelinating disease and treated with anti-inflammatory drugs and antibodies for 2 years, but he showed no improvement. Patrick suffered from a genetic disease that altered the structure of a single enzyme. The mutation in this enzyme caused: Loss of its ability to catalyze its specific reaction Loss of its ability to be regulated properly Which statement about enzymes is correct? [color1] Consider the following metabolic pathways: Pyruvate → Acetyl-CoA → Krebs cycle Pyruvate → Lactate (lactic acid) If Patrick’s enzyme, responsible for converting pyruvate to acetyl-CoA, were inhibited, what would happen to pyruvate metabolism? [color9] Patrick suffered from lactic acidosis, which caused hyperventilation, muscle pain and weakness, and abdominal pain and nausea. He inherited a mutation leading to pyruvate dehydrogenase complex disease (PDCD). Pyruvate dehydrogenase is the enzyme that converts pyruvate to acetyl-CoA in mitochondria. The brain depends heavily on glucose for fuel. PDCD leads to degeneration of gray matter in the brain. Pyruvate accumulates, causing alanine and lactate accumulation in the blood (lactic acidosis). The lack of pyruvate dehydrogenase also resulted in decreased energy production, impairing ion gradients across membranes, muscle contraction, and protein synthesis. Why did Patrick develop paralysis? [color8] What cellular process is impaired if acetyl-CoA cannot be generated? [color4] A ketogenic diet may be used to treat this enzyme deficiency. Which foods can be metabolized to generate acetyl-CoA directly? [color3] The loss of which molecule was most critical for Patrick’s paralysis? [color6] Resolution Despite his family’s efforts to care for him at home, Patrick remained in hospitals and nursing homes until his death in 2006. He passed away due to pneumonia, sepsis, and renal failure at the age of 21. His family is grateful that he survived for 5 years on a respirator, four years longer than initially predicted. Source: National Center for Case Study Teaching in Science, University at Buffalo, State University of New York
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