{"id":160537,"date":"2024-02-27T18:34:54","date_gmt":"2024-02-27T18:34:54","guid":{"rendered":"https:\/\/tecscience.tec.mx\/en\/?p=160537"},"modified":"2024-12-10T17:17:44","modified_gmt":"2024-12-10T23:17:44","slug":"hurler-syndrome","status":"publish","type":"post","link":"https:\/\/tecscience.tec.mx\/en\/health\/hurler-syndrome\/","title":{"rendered":"The difficult (and necessary) path to diagnosing rare diseases"},"content":{"rendered":"\n

Treating rare diseases<\/strong> is not easy. In general, they are not well known, so diagnosing them accurately \u2013and in time\u2013 and having the needed medications or interventions can be complicated.<\/p>\n\n\n\n

Consuelo Cant\u00fa<\/strong><\/a>, a researcher and doctor specialized in clinical genetics<\/strong> at the School of Medicine and Health Sciences<\/a> of Tec de Monterrey, experienced this firsthand when, together with a multidisciplinary team, she cared for a nine-month-old patient who was diagnosed with mucopolysaccharidosis type I (MPS I)<\/strong>, also known as Hurler Syndrome<\/strong>.<\/p>\n\n\n\n

\u201cThe syndrome is part of a group of diseases where lysosomes fail,\u201d explains Cant\u00fa in an interview with TecScience<\/em><\/strong>.<\/p>\n\n\n\n

Lysosomes<\/strong> are compartments within cells responsible for breaking down molecules and other elements. When these fail, the molecules can accumulate and cause different symptoms.<\/p>\n\n\n\n

In Hurler Syndrome, what is missing is an enzyme called alpha-L-iduronidase, which is responsible for breaking down a type of sugars called glycosaminoglycans, which are present in some foods, such as egg whites.<\/p>\n\n\n\n

\u201cWhen they can’t be broken down, they accumulate in different organs and cause damage,\u201d explains Cant\u00fa. The main organs or systems affected are the central nervous system<\/strong>, the cardiovascular<\/strong> system, the liver, the spleen, the spine, the joints, and the skin.<\/p>\n\n\n\n

The disease can generally be mild or severe and has multiple symptoms. In the case of the little boy who was diagnosed by the team, these were breathing difficulties, macrocephaly, a pronounced growth on the head, an enlarged liver, an umbilical hernia, and a spinal disorder that causes people to slouch.<\/p>\n\n\n\n

\u201cDiagnosing and treating him was a battle,\u201d<\/strong> says Cant\u00fa.<\/p>\n\n\n\n

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