Dihydrolipoamide dehydrogenase deficiency
Other Names for this Disease
- Pyruvate dehydrogenase E3 deficiency
- DLD deficiency
- E3-deficient maple syrup urine disease
- E3 deficiency
- Maple syrup urine disease, type III
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lactic acidosis and delayed development (most commonly); later-onset neurological dysfunction; or adult-onset isolated liver disease. Signs and symptoms may include lactic acidosis shortly after birth; hypotonia and lethargy in infancy; feeding difficulties; seizures; and various other health issues. Liver problems can range from hepatomegaly to life-threatening liver failure. Symptoms often occur in episodes that may be triggered by illness or other stresses on the body. Many affected infants do not survive the first few years of life; those who survive through early childhood often have growth delay and intellectual disability. Some with onset later in childhood may have neurological dysfunction with normal cognitive development. DLD deficiency is caused by mutations in the DLD gene and is inherited in an autosomal recessive manner.Dihydrolipoamide dehydrogenase (DLD) deficiency is a very rare condition that can vary in age of onset, symptoms and severity. The condition may be characterized by early-onset
Last updated: 8/26/2015
- Shane C Quinonez and Jess G Thoene. Dihydrolipoamide Dehydrogenase Deficiency. GeneReviews. July 17, 2014; http://www.ncbi.nlm.nih.gov/books/NBK220444/.
- Dihydrolipoamide dehydrogenase deficiency. Genetics Home Reference. September, 2014; http://ghr.nlm.nih.gov/condition/dihydrolipoamide-dehydrogenase-deficiency.
- Garry Brown. Pyruvate dehydrogenase E3 deficiency. Orphanet. April, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394.
- Genetics Home Reference (GHR) contains information on Dihydrolipoamide dehydrogenase deficiency. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Dihydrolipoamide dehydrogenase deficiency. Click on the link to view a sample search on this topic.