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DLDD
MCID: DHY010
MIFTS: 48
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Dihydrolipoamide Dehydrogenase Deficiency (DLDD)
Categories:
Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Dihydrolipoamide Dehydrogenase Deficiency:
Characteristics:Orphanet epidemiological data:58
pyruvate dehydrogenase e3 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adolescent,late childhood; OMIM®:57 (Updated 05-Apr-2021)
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:31
dihydrolipoamide dehydrogenase deficiency:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Nephrological diseases Liver diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Inborn errors of metabolism |
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MedlinePlus Genetics :
43
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.A common feature of dihydrolipoamide dehydrogenase deficiency is a potentially life-threatening buildup of lactic acid in tissues (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. Neurological problems are also common in this condition; the first symptoms in affected infants are often decreased muscle tone (hypotonia) and extreme tiredness (lethargy). As the problems worsen, affected infants can have difficulty feeding, decreased alertness, and seizures. Liver problems can also occur in dihydrolipoamide dehydrogenase deficiency, ranging from an enlarged liver (hepatomegaly) to life-threatening liver failure. In some affected people, liver disease, which can begin anytime from infancy to adulthood, is the primary symptom. The liver problems are usually associated with recurrent vomiting and abdominal pain. Rarely, people with dihydrolipoamide dehydrogenase deficiency experience weakness of the muscles used for movement (skeletal muscles), particularly during exercise; droopy eyelids; or a weakened heart muscle (cardiomyopathy). Other features of this condition include excess ammonia in the blood (hyperammonemia), a buildup of molecules called ketones in the body (ketoacidosis), or low blood sugar levels (hypoglycemia).Typically, the signs and symptoms of dihydrolipoamide dehydrogenase deficiency occur in episodes that may be triggered by fever, injury, or other stresses on the body. Affected individuals are usually symptom-free between episodes. Many infants with this condition do not survive the first few years of life because of the severity of these episodes. Affected individuals who survive past early childhood often have delayed growth and neurological problems, including intellectual disability, muscle stiffness (spasticity), difficulty coordinating movements (ataxia), and seizures.
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 seizures, ataxia 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 vomiting and neurodevelopmental delay GARD : 20 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. 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) (Updated 05-Apr-2021) KEGG : 36 Dihydrolipoamide dehydrogenase (DLD) deficiency, also known as maple syrup urine disease type III, is a rare autosomal recessive disorder. DLD functions as the E3 subunit of three mitochondrial enzyme complexes: branched chain alpha-ketoacid dehydrogenase, alpha-ketoglutarate dehydrogenase, and pyruvate dehydrogenase. DLD deficiency variably presents with either a severe neonatal encephalopathic phenotype or a primarily hepatic phenotype. UniProtKB/Swiss-Prot : 72 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 : 73 Dihydrolipoamide dehydrogenase (DLD), also known as dihydrolipoyl dehydrogenase, mitochondrial, is an... more...
GeneReviews:
NBK220444
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Human phenotypes related to Dihydrolipoamide Dehydrogenase Deficiency:58 31 (show all 35)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:246900 (Updated 05-Apr-2021)UMLS symptoms related to Dihydrolipoamide Dehydrogenase Deficiency:seizures; ataxia; headache; lethargy; cyanosis; dyspnea on exertion GenomeRNAi Phenotypes related to Dihydrolipoamide Dehydrogenase Deficiency according to GeneCards Suite gene sharing:26 (show all 21)
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MalaCards organs/tissues related to Dihydrolipoamide Dehydrogenase Deficiency:40
Liver
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Articles related to Dihydrolipoamide Dehydrogenase Deficiency:(show top 50) (show all 85)
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Genes related to Dihydrolipoamide Dehydrogenase Deficiency (4 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Dihydrolipoamide Dehydrogenase Deficiency:6 (show top 50) (show all 195)
UniProtKB/Swiss-Prot genetic disease variations for Dihydrolipoamide Dehydrogenase Deficiency:72
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GEO
for disease gene expression data for Dihydrolipoamide Dehydrogenase Deficiency.
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Pathways related to Dihydrolipoamide Dehydrogenase Deficiency according to KEGG:36
Pathways related to Dihydrolipoamide Dehydrogenase Deficiency according to GeneCards Suite gene sharing:
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Cellular components related to Dihydrolipoamide Dehydrogenase Deficiency according to GeneCards Suite gene sharing:
Biological processes related to Dihydrolipoamide Dehydrogenase Deficiency according to GeneCards Suite gene sharing:
Molecular functions related to Dihydrolipoamide Dehydrogenase Deficiency according to GeneCards Suite gene sharing:
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