The SSIEM (Society for the Study of Inborn Errors of Metabolism) put on another great symposium in Lisbon. They do this every year to discuss the latest results of scientific investigation related to Inborn Errors of Metabolism.
Posts Tagged ‘MSUD’
MSUD, Maple Syrup Urine Disease
Monday, June 30th, 2008This is part three in the series for Metabolic Disease Awareness Week. It focuses on Maple Syrup Urine Disease or as it is commonly called MSUD.
MSUD has an incidence rate of 1 in 250,000 people in the UK (this is similar to the US): it is inherited in a autosomal recessive manner. This means that the parents of the affected child carry a genetic trait that causes MSUD. There is a 25% chance of having a child with MSUD if both parents are carriers.
Tags: Add new tag, Maple Syrup Urine Disease, metabolic disorder, MSUD
Metabolic Awareness Week
Friday, June 27th, 2008The 29th of June sees the advent of another Metabolic Awareness Week (from CLIMB) in the UK. As a dietetic student with a keen interest in this field, I wanted to take the opportunity of sharing my thoughts on the subject. I will write a series of articles over the coming days to help increase the exposure of Inborn Metabolic Disorders.
Tags: Add new tag, HCU, metabolic, metabolic disorder, MSUD, PKU