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UI physician seeks to increase awareness of rare syndrome
IOWA CITY, Iowa -- University of Iowa pediatricians could not save the lives of two sibling infants born with a rare disorder of sugar metabolism. The number and severity of the babies' complications were too great.
However, Michael Acarregui, M.D., UI assistant professor of pediatrics, hopes that by detailing the babies' conditions in a recent issue of the Journal of Pediatrics, he can increase the awareness of the carbohydrate-deficient glycoprotein syndrome (CDGS) that affected the infants. Ultimately, he wants to help other pediatricians learn to recognize, diagnose and, in some cases, treat the disorder.
"Disorders of carbohydrate metabolism are under-diagnosed and some of these disorders may be treatable," Acarregui said. "Therefore, raising the awareness of the clinician about these syndromes may allow us to more fully identify and perhaps treat affected individuals."
In his article, Acarregui discusses the complications that eventually led to the deaths of the two related infants born a year apart. Both had extremely low platelet counts. Some of the other problems included an underdeveloped brain, enlarged liver and spleen, accumulation of serous fluid in the peritoneal cavity, low concentrations of albumin in the blood and intestinal disease characterized by diarrhea with protein loss.
Some of the red-flag symptoms that clinicians should look for in identifying CDGS include abnormal physical features, large livers and failure to thrive. However, some types of CDGS present only with large livers and gastrointestinal symptoms.
CDGS is a condition that infants are born with. Enzyme abnormalities are the underlying cause of the problem, Acarregui said. Unlike previously described accounts of patients with CDGS who had deficiencies in the enzymes phosphomannose isomerase or phosphomannomutase, studies suggest that the two patients Acarregui encountered had deficiencies of other enzymes important for sugar metabolism.
Acarregui said he does not know how many infants suffer from CDGS. Although he called the conditions rare, recent reports suggest that the frequency is probably greater than previously thought. As awareness of CDGS increases, more patients may be diagnosed, Acarregui said.
"Early diagnosis and, possibly, treatment of affected babies may be a reality as physicians begin to recognize infants with these disorders," he said.
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