Dr. Sheela Nampoothiri traveled to Ohio this past June to attend the MSUD Symposium. She was interested in
learning more about diagnosis and treatment in the US. In India, MSUD is difficult to treat. While they do have an amino
acid analyzer, it uses high pressure liquid chromatography, not the more accurate tandem mass spectrometry. When
needed, filter paper samples are sent abroad.
India does not screen newborns for MSUD, nor do they have metabolic formulas to treat inborn errors of metabolism. They
have not been able to overcome the hurdles of customs clearance and cost, which must be born by the patient. BCAA free
TPN is also not available.
MSUD in India
- Written by Joyce Brubacher
- Category: Volume 24-1