Split suppository reveals metabolic disease

Looking down the neck reveals rare metabolic disease

09/02/2014

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

Illness can be fatal
A German-Dutch research team has succeeded in deciphering a previously unknown metabolic disease. Due to a genetic defect, those affected lack the enzyme phosphoglucomutase 1 (PGM 1). Especially with great effort, your body can not rely on stored energy reserves (glycogen). The consequences of this are manifold and can sometimes be fatal: muscle breakdown, red urine after much effort, liver disease, dangerously low blood sugar and severe heart muscle diseases.

Simple diagnosis and favorable therapy
After the publication in the journal „New England Journal of Medicine“ Last week scientists from the Universities of Münster and Nijmwegen presented their work on Friday. The researchers not only found a simple diagnosis, but also a favorable therapy. Almost all affected patients have in common that they have a split suppository in the pharynx. According to the information, the sugar galactose can almost compensate for the enzyme deficiency. When digesting many people can galactose from lactose (lactose) win, which is available, inter alia, in drugstores or supermarkets. The doctors also advise the person concerned from very energy-consuming sport.

Simpler look in the neck
Thorsten Marquardt, Head of Inborn Metabolic Diseases at the University of Münster, explained: „A simple look in the neck can thus provide evidence of a serious illness with potentially fatal consequences.“ In the future, physicians of various disciplines could correctly interpret the symptoms of illness, so his hopes. „From my point of view, a newborn screening makes sense to recognize early on this dangerous disease“, so Marquardt.

Childish growth inhibition and absence of puberty
The gift of breast milk can bridge the first few months in neonates with the genetic defect. This has a high lactose content, so that the disease often remains without symptoms after birth. According to the study, there could be growth inhibition in older children without treatment and puberty in some girls. However, the researchers still can not say how many people are affected by the metabolic disease. A blood test developed in Münster provides a reliable diagnosis. (Ad)