Dihydrolipoamide Dehydrogenase Deficiency malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Nephrological diseases
Aliases & Descriptions for Dihydrolipoamide Dehydrogenase Deficiency:
Orphanet epidemiological data:51
dihydrolipoamide dehydrogenase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adolescent,late childhood
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Nephrological diseases
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
NIH Rare Diseases:45 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 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. last updated: 8/26/2015
MalaCards based summary: Dihydrolipoamide Dehydrogenase Deficiency, also known as dld deficiency, is related to dihydrolipoamide dehydrogenase e3 deficiency and maple syrup urine disease, type ii, and has symptoms including aminoaciduria, global developmental delay and cognitive impairment. An important gene associated with Dihydrolipoamide Dehydrogenase Deficiency is DLD (Dihydrolipoamide Dehydrogenase). Affiliated tissues include liver, pituitary and breast.
UniProtKB/Swiss-Prot:67 Dihydrolipoamide dehydrogenase deficiency: An autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism.
Genetics Home Reference:23 Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect several body systems. Signs and symptoms of this condition usually appear shortly after birth, and they can vary widely among affected individuals.
OMIM:49 DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of... (246900) more...
GeneReviews summary for NBK220444
Diseases related to Dihydrolipoamide Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Dihydrolipoamide Dehydrogenase Deficiency:
Symptoms by clinical synopsis from OMIM:246900
Clinical features from OMIM:246900
Symptoms:51 (show all 11)
HPO human phenotypes related to Dihydrolipoamide Dehydrogenase Deficiency:(show all 24)
UMLS symptoms related to Dihydrolipoamide Dehydrogenase Deficiency:dyspnea on exertion, seizures, lethargy, headache, cyanosis, ataxia
MalaCards organs/tissues related to Dihydrolipoamide Dehydrogenase Deficiency:33
Liver, Pituitary, Breast, Prostate
Articles related to Dihydrolipoamide Dehydrogenase Deficiency:
UniProtKB/Swiss-Prot genetic disease variations for Dihydrolipoamide Dehydrogenase Deficiency:67
Clinvar genetic disease variations for Dihydrolipoamide Dehydrogenase Deficiency:5 (show all 12)
Search GEO for disease gene expression data for Dihydrolipoamide Dehydrogenase Deficiency.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet