Clinical characteristics of DLD-deficiency are versatile. The disorder usually presents itself shortly after birth or in early childhood with vomiting, lethargy, low muscle tone, abdominal pain, and/or enlarged liver. Clinical symptoms are generally accompanied with laboratory alterations such as elevated lactate, amino acids and organic acids, and low glucose in the plasma. These life-threatening episodes are usually brought about by fever, viral infection, starvation, etc. Affected infants often fail to thrive and develop severe neurological symptoms (seizures, loss of coordination, difficulty of learning and developing). Less frequently cardiological abnormalities or muscle weakness is the leading clinical presentation. The disorder can also present itself only in adulthood with liver failure.
DLD