Programs
MSUD serves its mission through different program areas:
We are currently gathering information and resources for people living with MSUD.
Medical Advances
Below is information about medical advances for people living with Maple Syrup Urine Disease.
Amino Acid Analyzer
The
“Amino Acid Analyzer” (AAA) is a piece of equipment that will enable
better care for patients who have metabolic conditions involving
protein metabolism. This family of disorders includes
Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Urea Cycle
Disorders (UCD), and many others.
For those families living with any of these disorders/diseases, they
have discovered first hand, it can be a very difficult task to
attempt to monitor the treatment of these children, without having
an AAA nearby. Having to send blood samples out of state in order to
analyze them creates in a significant delay in getting back the
results. This is problematic, particularly when the child is ill and
it is vital to know what his/her levels of amino acids are before
knowing how to appropriately treat them. Having an AAA within the
State of Arizona would mean fast results on quantitative amino acid
panels, which is imperative in appropriately treating these
children.
For families with metabolic conditions such as MSUD or UCDs, having
an AAA on site will mean precision treatment of acute illness, and
better management of long-term dietary control. For PKU families,
this will not affect the way your child’s weekly or monthly PHE
level is monitored, but when the hospital wants to look at the full
composition of amino acids (of particular interest is tyrosine),
they will be able to do this on site and have results very quickly.
As you can see, obtaining this piece of equipment will affect nearly
the entire metabolic community in a very positive way. We believe
the State of Arizona does a great job at providing for the needs of
these children; however, they now have the opportunity to do an
EXCELLENT job managing these children.
Haley was indeed lucky. It is of great importance to note that much
of the impact of obtaining this machine is held in the future. As
new babies are born and diagnosed with these conditions, the AAA
will allow medical staff to care for them with improved capacity for
good outcomes—and do so without having to send the families to a
different state to receive their care.