Split suppository reveals metabolic disease

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A look in the throat reveals a rare metabolic disorder

A German-Dutch team of scientists has decoded a previously unknown metabolic disorder. The consequences of the disease are varied and can be fatal. Almost all affected patients have a split suppository in the throat.

Disease can be fatal A Dutch-German team of researchers has succeeded in decoding a previously unknown metabolic disorder. Because of a genetic defect, those affected lack the enzyme phosphoglucomutase 1 (PGM 1). Your body will not be able to access stored energy reserves (glycogen), especially when you are working hard. The consequences of this are manifold and can sometimes be fatal: muscle breakdown, red urine after exertion, liver diseases, dangerously low blood sugar and severe heart muscle diseases.

Easy diagnosis and inexpensive therapy After publication in the specialist journal "New England Journal of Medicine" last week, scientists from the universities of Münster and Nijmwegen presented their work on Friday. The researchers found not only a simple diagnosis, but also an inexpensive therapy. Common to almost all affected patients is that they have a split suppository in the throat. According to the information, the sugar galactose can almost compensate for the enzyme deficiency. During digestion, many people can get galactose from milk sugar (lactose), which is available in drugstores or supermarkets, among others. The doctors also advise those affected from very energy-consuming sports.

A simple look in the throat Thorsten Marquardt, head of the area of ​​congenital metabolic diseases at the University of Münster, explained: "A simple look in the throat can thus indicate a serious illness with potentially fatal consequences." interpret, so his hopes. "From my point of view, a newborn screening makes sense to detect this dangerous disease at an early stage," says Marquardt.

Child growth inhibition and absence of puberty The administration of breast milk in newborns with the genetic defect can bridge the first months. This has a high milk sugar content, so that the disease often remains without symptoms after birth. According to the study, older children may experience growth retardation without treatment and some girls fail to reach puberty. However, the researchers are still unable to say how many people are affected by the metabolic disorder. A blood test developed in Münster provides a reliable diagnosis. (ad)

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