She Thought She Had The Flu, But She’s Never Been So Sick


Whatever the reason, he told the worried young man that his muscles would recover. But his kidneys were in danger. His urine was dark because the oxygen-carrying parts of the muscle, known as myoglobin, were collected in the kidneys. Myoglobin is a deep red color; that’s why the muscle is red. The most important thing the medical team did for him at the time was to give him fluids to help his kidneys flush out myoglobin and other components released by the damaged muscle.

Ue requested additional tests to monitor the patient’s creatine kinase. When admitted, his total CK, originally reported to be over 40,000, was actually 189,000. It peaked the next day with almost double that: 364,000. Ue resumed IV fluids and looked for a cause for the worst case of rhabdo he had ever seen. It wasn’t hepatitis or one of the common viruses they tested. It wasn’t Wilson’s disease. It was none of the drugs he was investigating.

Another? Searching for an answer, he turned to the medical literature and found an article describing two teenagers who, like his patient, developed severe rhabdo after moderate training. The authors listed the factors that may predispose a patient to this type of muscle injury and found that Ue sought. There are people born with abnormalities in the way their bodies use the fuel provided by the food they eat. Because of this abnormality, these people can literally run out of fuel when they’re stressed or overworked. Could he have one of these rare inherited diseases? To answer this question, after the patient was well enough to leave the hospital, Ue referred him to a neurologist specializing in neuromuscular diseases.

The patient, a neurologist at Beth Israel Deaconess Medical Center in Boston, Dr. It was months later when she took enough breaks from her schedule to make an appointment to see Courtney McIlduff. The man reported that he has had two more seizures since his week in the hospital, though neither as severe as the first. Both happened after a comfortable walk. Hearing this, McIlduff, like Ue, began to consider an inherited problem of turning food into fuel. These so-called metabolic myopathies sometimes do not manifest themselves until adolescence or even adulthood.

McIlduff studied the man carefully, looking for muscle weakness. Many forms of muscle disease can permanently change how muscles look or work, but most metabolic myopathy does not. The patient’s muscle examination was completely normal. He sent her to get genetic testing, to look for one of several inborn errors of metabolism.

And there really was one: He was born without the ability to make an enzyme called carnitine palmitoyltransferase type 2. Patients with CPT2 deficiency are missing out on the necessary biological equipment to convert some dietary fats into energy. Normally, the body works on a type of sugar made from carbohydrates and stored in the liver. When this sugar is depleted, the body switches to fat for fuel. Patients with CPT2 deficiency are unable to do so, or at least not well. Without proper fuel, muscle cells are injured and release their contents, causing pain and dark urine. Neither of the man’s parents had the disorder, but both have one copy of the faulty gene for this enzyme. It takes two copies to get the disease, and so his sons got one copy of each.


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