Dihydrolipoamide dehydrogenase deficiency

Overview

What is dihydrolipoamide dehydrogenase deficiency?

Dihydrolipamide dehydrogenase deficiency, or DLD, is a severe metabolic disorder that causes neurological and liver problems. The symptoms of DLD are seen after episodes of stress such as fever, infection, injury or other bodily stress. The onset of DLD is often in the neonatal period but can be seen in the second or third decade. Most affected individuals do not survive the first years of life. Those who survive past early childhood often have delayed development and growth, muscle stiffness, seizures, and inability to coordinate muscle movements. Many of those diagnosed later in life have only liver disease without neurological problems. These individuals are the minority of those affected by DLD.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/dihydrolipoamide-dehydrogenase-deficiency/overview/3433 • DATE UPDATED: 2016-08-31

References

Dihydrolipoamide dehydrogenase deficiency. (2014, September). Retrieved February 18, 2016, from Genetics Home Reference. Web. Genetics Home Reference

Quinonez, S.C. and Thoene, J.G. "Dihydrolipoamide Dehydrogenase Deficiency." 17 July 2014. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews. Seattle (WA): University of Washington. Web. GeneReviews

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