Ketoacidosis not linked to diabetes in woman with SMA type 2
Researchers emphasized importance of 'appropriate treatment'
The case of a woman with spinal muscular atrophy (SMA) type 2 who developed an abnormal accumulation of molecules called ketone bodies was described in a recent case report in the U.S.
Called ketoacidosis, this occurs when fats are broken down to obtain energy, resulting in ketone bodies being produced that make the blood more acidic. Ketoacidosis happens when cells don’t get enough glucose, and may cause significant health complications and mortality.
The woman’s condition improved after she was diagnosed and given treatment, indicating that “timely diagnosis of ketoacidosis in this population is of paramount importance to initiate the appropriate treatment and avoid the progression of this potentially life-threatening condition,” the researchers wrote. The case was described in “Nondiabetic Ketoacidosis in a Patient With Spinal Muscular Atrophy Type II” and published in AACE Endocrinology and Diabetes.
SMA is mainly caused by mutations in the SMN1 gene, leading to a deficiency of the SMN protein and the progressive loss of motor neurons, the nerve cells that control voluntary movement. Besides progressive muscle weakness and poor muscle tone, people with SMA may also have metabolic problems.
A diagnosis and treatment
Here, researchers described the case of a 51-year-old woman with SMA type 2, with paralysis of her arms and legs, scoliosis, and chronic respiratory failure that required noninvasive breathing support. She was seen at the emergency department having diarrhea, decreased food intake, nausea, and abdominal pain. She had no history of diabetes, a condition that may lead to ketoacidosis when it’s not controlled.
At her initial examination, the woman had high systolic blood pressure and heart rate, a lack of energy, dry mucous membranes (which line body’s canals and organs), a distended abdomen, low muscle tone, and absence of reflexes in both arms and legs. Lab work revealed high white blood cell counts and acidic arterial blood gas, which measures levels of oxygen, carbon dioxide, and pH.
She also had low blood levels of bicarbonate (which helps maintain the body’s acid-base balance, its pH), blood acidosis, elevated levels of beta-hydroxybutyrate (a ketone body), and high glucose. A urine analysis also showed the presence of abnormal levels of ketone bodies.
However, hemoglobin A1c, a blood test that measures blood glucose in the previous two to three months, was within the normal range, a sign that she didn’t have diabetes. On prior hospital admissions due to urinary and lung infections, blood acidosis and ketones in her urine were noted. Beta-hydroxybutyrate wasn’t measured on those occasions, however.
The woman initiated treatment with an infusion into a vein with dextrose, a sugar similar to glucose that can also serve as a source of energy, and insulin, a hormone that regulates glucose uptake by cells. This helped ease her symptoms and improve lab work results. Insulin was then stopped though the woman continued receiving treatment for inflammation of the stomach and intestines called gastroenteritis, caused by a virus or bacteria.
“Our case demonstrates that despite SMA being mainly a neuromuscular disorder, endocrine abnormalities [e.g. diabetes] have been described in these patients,” the researchers wrote. However, in this case, the patient’s ketoacidosis was not associated with diabetes. Ketoacidosis may also occur due to starvation, alcohol use, drugs, or inborn errors of metabolism, the investigators said. “These abnormalities should be considered for appropriate diagnoses and management of the associated metabolic [coexisting disorders].”
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