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In the realm of biology and medicine, enzymes play a vital role in various physiological processes. Tissue-nonspecific alkaline phosphatase (TNAP) is one such enzyme that holds immense importance in human health and disease. This blog post aims to shed light on the nature of TNAP, its functions, and its significance in maintaining overall well-being. Understanding... Continue Reading →
Introduction: Ehlers-Danlos Syndrome (EDS) and Hypophosphatasia (HPP) are two distinct medical conditions with their own set of symptoms and complications. However, in some cases, there appears to be an overlap between the two disorders, leading to diagnostic challenges and potential implications for patient management. In this blog post, we will delve into the intersection of... Continue Reading →
Hypophosphatasia (HPP) is a rare genetic disorder that affects bone and dental development. It is caused by mutations in the ALPL gene, which codes for the tissue-nonspecific alkaline phosphatase enzyme (TNSALP). TNSALP is involved in the mineralization of bones and teeth, and a deficiency of this enzyme can lead to a wide range of symptoms.... Continue Reading →
When I was diagnosed with my ultra-rare genetic disease Hypophosphatasia back in August 2017 I was told there was only one approved medicine to treat the disease and not every patient is eligible to get on the treatment. The main reason is that the drug is only approved for patients who have a specific form... Continue Reading →
The main theme of Inflammatory Bowel Disease (IBD) Awareness week (December 1st-7th) this year is making IBD visible. What does this mean? IBD is considered an "Invisible Illness" which means that even though we don't look sick on the outside, our insides show a whole different story. I can't tell you how many times I... Continue Reading →