{"id":27341,"date":"2022-05-19T13:10:12","date_gmt":"2022-05-19T13:10:12","guid":{"rendered":"https:\/\/cells4life.com\/?p=27341"},"modified":"2023-07-07T16:06:35","modified_gmt":"2023-07-07T16:06:35","slug":"what-is-hurler-syndrome","status":"publish","type":"post","link":"https:\/\/cells4life.com\/us\/2022\/05\/what-is-hurler-syndrome\/","title":{"rendered":"Hurler Syndrome: Can Cord Blood Benefits Eradicate It"},"content":{"rendered":"[et_pb_section fb_built=”1″ _builder_version=”4.16″ global_colors_info=”{}”][et_pb_row admin_label=”Header text” _builder_version=”4.16″ background_size=”initial” background_position=”top_left” background_repeat=”repeat” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ custom_padding=”|||” global_colors_info=”{}” custom_padding__hover=”|||”][et_pb_text admin_label=”How to prepare for your Big Day” _builder_version=”4.16″ background_enable_color=”off” custom_padding=”10px|10px|5px|10px|false|false” global_colors_info=”{}”]\n

Have you heard of Hurler Syndrome? If not, you\u2019re most likely in the majority. <\/strong><\/p>\n[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row admin_label=”Section 1 – Intro Para” _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_text admin_label=”Text: (It is rare indeed.)” _builder_version=”4.16″ background_enable_color=”off” custom_padding=”0px|10px|5px|10px|false|false” global_colors_info=”{}”]\n

It is rare indeed. Obscure, even. Perhaps Hurler Syndrome wouldn\u2019t be on your radar unless it had touched you, or the family of someone you know. It\u2019s estimated that just one in every 100,000 births will be affected by this condition (https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK532261\/), yet it devastates lives.<\/p>\n

However, we also think that it\u2019s a condition that could be in line for complete eradication sometime in the future.<\/p>\n

This blog is all about Hurler Syndrome. What it means, and the impact it has on children, young people and those who love them.<\/p>\n

And, given the right conditions, how stem cell banking could one day hail a breakthrough.<\/p>\n[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row admin_label=”Section 2 – (1. What is Hurler Syndrome?)” _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_text admin_label=”1. What is Hurler Syndrome?” _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”]\n

What is Hurler Syndrome?<\/strong><\/h3>\n[\/et_pb_text][et_pb_text admin_label=”Text: %22Hurler Syndrome is one of about 50 diseases..” _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”]\n

Hurler Syndrome is one of about 50 diseases known as lysosomal storage disorders \u2013 genetic variations that disrupt normal activity of lysosomes in human cells.
Let us explain.<\/p>\n

This syndrome is an inherited genetic disorder.<\/p>\n

It\u2019s also known as Mucopolysaccharidosis type 1, or \u2013 thankfully – MPS1 for short. Hurler Syndrome is caused by a variation in something called the IDUA gene \u2013 something in our bodies specifically responsible for producing an enzyme known as alpha-L-iduronidase.<\/p>\n

Yes, these are quite complicated medical terms but bear with us.<\/p>\n

Alpha-L-iduronidase is a specialised protein normally found in the lysosomes of cells, where it breaks down a sugar called mucopolysaccharide.<\/p>\n

This variation (in the aforementioned IDUA gene) causes a lack of alpha-L-iduronidase, which in turn results in a build-up of large, complex sugar molecules in the body\u2019s cells. Human beings are, in many ways, rather complicated machines; when one small but principal element malfunctions, everything does.<\/p>\n

In effect, here, we have a kind of chain reaction: one \u201cwrong\u201d thing leading to another, and so on. In this case, the body is unable to break down this sugar, and so it remains in the cells, causing damage.<\/p>\n

With MPS1, the inability to break down these molecules damages various parts of the body, such as the nervous system, the skeletal system, the eyes and the heart.<\/p>\n[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row admin_label=”Section 3 (2. A (Very) Short History)” _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_text admin_label=”Title: 2. A (Very) Short History” _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”]\n

A (Very) Short History<\/strong><\/h3>\n[\/et_pb_text][et_pb_text admin_label=”Text: As is often the case…” _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”]\n

As is often the case, conditions such as these are named for the people who discovered them.<\/p>\n

In 1917, a scientist named Charles A. Hunter noticed a pattern of symptoms in a small number of small children, rather bluntly describing these patients as presenting with \u201cgargoylism\u201d \u2013 which we\u2019ll move on from. Two years later, possibly unaware of Hunter\u2019s previous work due to World War 1 communication problems, Gertrud Hurler, a German paediatrician, further defined the syndrome, publishing research detailing a collection of distinct symptoms relating to appearance and mental function, which we\u2019ll outline below.<\/p>\n

In 1962, Scheie identified a milder form, which has become known as Scheie Syndrome.<\/p>\n

Thus, we have \u201csevere\u201d and \u201cattenuated\u201d versions of Hurler Syndrome, the latter being less serious if one can offer that classification of such a life-limiting condition.<\/p>\n[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row admin_label=”Section 4 (3. What Are The Symptoms of Hurler Syndrome?)” _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_column type=”4_4″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_text admin_label=”Title: 3. What Are The Symptoms of Hurler Syndrome?” _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”]\n

What Are The Symptoms of Hurler Syndrome?<\/strong><\/h3>\n[\/et_pb_text][et_pb_text admin_label=”Text: %22Generally, babies born with Hurler Syndrome may …” _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”]\n

Generally, babies born with Hurler Syndrome may appear normal. Symptoms start to appear between the ages of 3 and 8 years old and present on a spectrum. They\u2019re distressing, without a doubt and include (but aren\u2019t limited to):<\/p>\n