A Sandor Initiative Towards Richer Clinical Insights
Disclaimer: This newsletter is intended to enrich the insights related to genetic disorders from a laboratory perspective. The objective of this newsletter is to share knowledge from a lab perspective to facilitate the dialogue of genetic disorders diagnosis. We want to sincerely thank the physicians whose dedication, knowledge and intelligence helps arrive at answers through diagnosis enabling timely and effective prevention.
Mucopolysaccharidosis type III is a multisystem lyso-somal storage disorder characterized by progressive degeneration of the central nervous system. It is a rare genetic condition that causes fetal brain damage and is a type of childhood dementia. MPS III is caused due to lack of an enzyme that breaks down and recycles a complex sugar molecule called 'heparan sulfate' leading to the accumulation of this molecule in the cells of the central nervous system2. It is inherited is an autosomal recessive pattern. Children with MPS III usually appear healthy at birth. The symptoms first appear between the ages of 2 to 6 years, with behavioral disorders (hyperkinesia, aggressiveness) and intellectual deterioration, sleep disorders, and very mild dysmorphism.
The neurological involvement becomes more prominent around the age of 10 years with a loss of motor milestones and communication problems3. Other symptoms include coarse hair, excess hair growth (hirsutism), slightly coarse facial features, mildly enlarged liver and/or spleen, speech delay, respiratory and ear infections, diarrhea, hernias, sei- zures, and unsteady gait2. Children with MPS III also often experience hearing loss and vision impairment. It is a not yet treatable severe neurodegenerative disease, develop- ing new therapeutic strategies might change the course of the disease significantly.
A 6 years old female baby born to a consanguineous couple presented with:
|Whole Exome Sequencing
|Next Generation Sequencing
|Paired-End Sequencing was performed with 2x100/2x150 chemistry, on an Illumina platform.
|Enzyme Analysis for Alpha N-acetyl glucosaminidase
|Sodium Heparin Blood
|Fluorometry assay with artificial substrate
|Assay carried on leukocytes.