Lipoamide dehydrogenase deficiency (E3) is a rare inherited disease that causes metabolic abnormalities, neurological damage, poor muscle tone, developmental delay, and movement problems. In some people, it is fatal in childhood. Infants with E3 often appear normal until the age of 8 weeks to 6 months when they develop severe lactic acidosis, a buildup of lactic acid in the body that causes vomiting, abdominal pain, and rapid breathing. If untreated, it can be fatal.
In addition to lactic acid buildup, a number of other substances accumulate in the bodies of people with E3. These include blood pyruvate, alpha-ketoglutarate, branched-chain amino acids, alpha-hydroxyisovalerate, and alpha-hydroxyglutarate.
Infants and children with the disease show developmental delay and a progressive breakdown of their nervous system. They often have poor muscle tone (hypotonia) and abnormal movements. The diseases is also called maple syrup urine disease type 3 due to the characteristic "maple syrup" smell of their urine.
E3 is extremely rare. Fewer than 20 cases are known worldwide. The majority of known cases come from families of Ashkenazi Jewish background.
There is no established treatment for E3 due to the rarity of the disease. Combinations of diet, vitamins, and supplements have been tried without much success.
While the number of known cases does not allow for a well-established prognosis, it is thought that most people with E3 will die during childhood.
A support group to people with MSUD and their families, the organization helps to raise awareness for the disease.
Sandy Bulcher, Director
Phone: (740) 548-4475
A fact sheet on MSUD by a collaborative effort among state agencies in Alaska, California, Hawaii, Idaho, Oregon, and Washington to investigate the financial, legal, ethical, and social implications of programs that screen newborns for certain diseases.
Project coordinator: Lianne Hasegawa CSHN
Department of Health
741 Sunset Avenue
Honolulu, HI 96816
Phone: (808) 733-9039
Counsyl has renamed its products effective July 19, 2017. The Family Prep Screen is now the Foresight Carrier Screen.
The new names now appear on all communications from Counsyl. If you have any questions, please contact Counsyl directly.