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MCID: DHY010
MIFTS: 34
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Dihydrolipoamide Dehydrogenase Deficiency
Categories:
Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Nephrological diseases
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MalaCards integrated aliases for Dihydrolipoamide Dehydrogenase Deficiency:
Characteristics:Orphanet epidemiological data:59
pyruvate dehydrogenase e3 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adolescent,late childhood; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
highly variable severity onset usually in the neonatal period although later onset has been reported some patients may have normal psychomotor development high mortality in infancy and early childhood (in some patients) HPO:32
dihydrolipoamide dehydrogenase deficiency:
Onset and clinical course variable expressivity Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Nephrological diseases
ICD10:
34
Orphanet: 59
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
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NIH Rare Diseases
:
53
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.
MalaCards based summary : Dihydrolipoamide Dehydrogenase Deficiency, also known as dld deficiency, is related to maple syrup urine disease and pyruvate dehydrogenase e3-binding protein deficiency, and has symptoms including ataxia, cyanosis and headache. An important gene associated with Dihydrolipoamide Dehydrogenase Deficiency is DLD (Dihydrolipoamide Dehydrogenase), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Citrate cycle (TCA cycle). Affiliated tissues include liver, and related phenotypes are generalized hypotonia and vomiting Genetics Home Reference : 25 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 : 57 DLD deficiency is 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). This is the result of E3 being a common component of all 3 mitochondrial multienzyme complexes. Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. E3 deficiency is often associated with increased urinary excretion of alpha-keto acids, such as pyruvate (summary by Hong et al., 1996). E3 deficiency can also be associated with increased concentrations of branched-chain amino acids, as observed in maple syrup urine disease (MSUD; 248600), and is sometimes referred to as 'MSUD type III,' although patients with E3 deficiency have additional biochemical defects (Chuang and Shih, 2001; Robinson, 2001). (246900) UniProtKB/Swiss-Prot : 75 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. Wikipedia : 76 Dihydrolipoamide dehydrogenase (DLD), also known as dihydrolipoyl dehydrogenase, mitochondrial, is an... more...
GeneReviews:
NBK220444
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Diseases related to Dihydrolipoamide Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Dihydrolipoamide Dehydrogenase Deficiency:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:246900Human phenotypes related to Dihydrolipoamide Dehydrogenase Deficiency:59 32 (show all 34)
UMLS symptoms related to Dihydrolipoamide Dehydrogenase Deficiency:ataxia, cyanosis, headache, lethargy, seizures, dyspnea on exertion |
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MalaCards organs/tissues related to Dihydrolipoamide Dehydrogenase Deficiency:41
Liver
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Articles related to Dihydrolipoamide Dehydrogenase Deficiency:
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Genes related to Dihydrolipoamide Dehydrogenase Deficiency (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Dihydrolipoamide Dehydrogenase Deficiency:75
ClinVar genetic disease variations for Dihydrolipoamide Dehydrogenase Deficiency:6
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