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More information about
the history of 2-MBADD
2-MBADD
is the abbreviation for the condition called 2-Methylbutyryl-CoA
Dehydrogenase Deficiency. This condition is also known as SBCADD
which stands for Short Branched-Chain Acyl-CoA Dehydrogenase
deficiency.
This condition was first reported in 1999 in two children in a
European family and in a child and mother in a Pakistani family. Two
of the children were diagnosed because of symptoms of developmental
delay, poor growth and weak muscles. When these two children had a
fever, infection, or a poor appetite they developed more serious
symptoms, called a metabolic crisis. The sister of one of these
children was diagnosed at birth and immediately started a special
low protein diet and carnitine supplements. She is doing fine. The
Pakistani mother was diagnosed after her child was found to have
2-MBADD and she has never shown any symptoms.
Since 2001 over 30 children have been diagnosed with 2-MBADD in
Wisconsin and Minnesota. Most of these children are from Hmong
families. Some of the children started the low-protein diet and some
did not. None of the Hmong children with 2-MBADD in Wisconsin have
had any of the serious symptoms of 2-MBADD. A few of the babies had
weak muscles but this went away as they grew older. One child had
difficulty learning to talk but we don't know if this is due to
2-MBADD. None of the children have experienced a metabolic crisis.
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