Makindo Medical Notes"One small step for man, one large step for Makindo" |
|
---|---|
Download all this content in the Apps now Android App and Apple iPhone/Pad App | |
MEDICAL DISCLAIMER: The contents are under continuing development and improvements and despite all efforts may contain errors of omission or fact. This is not to be used for the assessment, diagnosis, or management of patients. It should not be regarded as medical advice by healthcare workers or laypeople. It is for educational purposes only. Please adhere to your local protocols. Use the BNF for drug information. If you are unwell please seek urgent healthcare advice. If you do not accept this then please do not use the website. Makindo Ltd. |
There are a few things that you need to know so that you can suspect such a diagnosis. There are some common features. By and large, the diseases are inherited as two carriers with autosomal recessive genes so the appearance of an affected child may be unexpected. The diseases seem commoner in the Ashkenazi Jewish population and many undergo screening so that couples can understand the risks. As you will know even with 2 carriers the chances of an affected child are 1 in 4.
Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders resulting from defects in lysosomal function. Lysosomes are cellular organelles that contain enzymes necessary for digesting various macromolecules. When these enzymes are deficient or dysfunctional, the substrates accumulate within lysosomes, leading to cellular and tissue damage. Below is an overview of some common lysosomal storage diseases, their causes, symptoms, and treatments.
Lysosomal storage diseases are a group of inherited disorders characterized by enzyme deficiencies leading to the accumulation of substrates within lysosomes. Early diagnosis and treatment are crucial for managing symptoms and improving quality of life. While enzyme replacement therapy is the cornerstone of treatment for many LSDs, other approaches such as substrate reduction therapy, hematopoietic stem cell transplantation, and gene therapy are also being explored. Ongoing research continues to improve our understanding and treatment options for these complex diseases.