MCID: DHY010
MIFTS: 36

Dihydrolipoamide Dehydrogenase Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Nephrological diseases categories

Aliases & Classifications for Dihydrolipoamide Dehydrogenase Deficiency

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Aliases & Descriptions for Dihydrolipoamide Dehydrogenase Deficiency:

Name: Dihydrolipoamide Dehydrogenase Deficiency 49 11 21 45 23 51 67
Dld Deficiency 21 45 23 51 67
Maple Syrup Urine Disease, Type Iii 45 22 23 24
E3 Deficiency 21 45 23 67
Lactic Acidosis Due to Lipoamide Dehydrogenase Deficiency 23 67
E3-Deficient Maple Syrup Urine Disease 45 51
Pyruvate Dehydrogenase E3 Deficiency 45 51
Lipoamide Dehydrogenase Deficiency 21 23
 
Lactic Acidosis, Congenital Infantile, Due to Lad Deficiency 65
Nadh Cytochrome B5 Reductase Deficiency 65
Dihydrolipoyl Dehydrogenase Deficiency 23
Lactic Acidosis Due to Lad Deficiency 23
Maple Syrup Urine Disease Type Iii 67
Msud Type Iii 67
Dldd 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
dihydrolipoamide dehydrogenase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adolescent,late childhood


External Ids:

OMIM49 246900
Orphanet51 2394
ICD10 via Orphanet28 E74.4

Summaries for Dihydrolipoamide Dehydrogenase Deficiency

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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 lactic acidosis and dihydrolipoamide dehydrogenase e3 deficiency, and has symptoms including global developmental delay, aminoaciduria and microcephaly. An important gene associated with Dihydrolipoamide Dehydrogenase Deficiency is DLD (Dihydrolipoamide Dehydrogenase). Affiliated tissues include liver.

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...

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.

GeneReviews summary for dld-def

Related Diseases for Dihydrolipoamide Dehydrogenase Deficiency

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Diseases related to Dihydrolipoamide Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis10.5
2dihydrolipoamide dehydrogenase e3 deficiency10.4
3hepatitis10.3
4liver disease10.3
5maple syrup urine disease, type ii10.3
6acute liver failure10.3
7myopathy10.3
8lacticacidemia due to pdx1 deficiency10.1

Graphical network of diseases related to Dihydrolipoamide Dehydrogenase Deficiency:



Diseases related to dihydrolipoamide dehydrogenase deficiency

Symptoms for Dihydrolipoamide Dehydrogenase Deficiency

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Symptoms by clinical synopsis from OMIM:

246900

Clinical features from OMIM:

246900

Symptoms:

 51 (show all 11)
  • organic acid metabolism anomalies
  • aminoacid metabolism anomalies/aminoaciduria
  • autosomal recessive inheritance
  • microcephaly
  • hepatomegaly/liver enlargement (excluding storage disease)
  • abnormal gait
  • movement disorder
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hepatocellular liver disease/hepatic failure
  • hypoglycemia

HPO human phenotypes related to Dihydrolipoamide Dehydrogenase Deficiency:

(show all 26)
id Description Frequency HPO Source Accession
1 global developmental delay hallmark (90%) HP:0001263
2 aminoaciduria hallmark (90%) HP:0003355
3 microcephaly typical (50%) HP:0000252
4 muscular hypotonia typical (50%) HP:0001252
5 gait disturbance typical (50%) HP:0001288
6 hepatomegaly typical (50%) HP:0002240
7 cognitive impairment typical (50%) HP:0100543
8 hepatic failure occasional (7.5%) HP:0001399
9 hypoglycemia occasional (7.5%) HP:0001943
10 decreased liver function rare (5%) HP:0001410
11 hepatomegaly rare (5%) HP:0002240
12 elevated hepatic transaminases rare (5%) HP:0002910
13 autosomal recessive inheritance HP:0000007
14 microcephaly HP:0000252
15 seizures HP:0001250
16 ataxia HP:0001251
17 muscular hypotonia HP:0001252
18 lethargy HP:0001254
19 encephalopathy HP:0001298
20 dystonia HP:0001332
21 hypertrophic cardiomyopathy HP:0001639
22 metabolic acidosis HP:0001942
23 hypoglycemia HP:0001943
24 lactic acidosis HP:0003128
25 variable expressivity HP:0003828
26 feeding difficulties HP:0011968

Drugs & Therapeutics for Dihydrolipoamide Dehydrogenase Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Dihydrolipoamide Dehydrogenase Deficiency

Genetic Tests for Dihydrolipoamide Dehydrogenase Deficiency

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Genetic tests related to Dihydrolipoamide Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Maple Syrup Urine Disease Type 322 DLD
2 Maple Syrup Urine Disease, Type 324

Anatomical Context for Dihydrolipoamide Dehydrogenase Deficiency

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MalaCards organs/tissues related to Dihydrolipoamide Dehydrogenase Deficiency:

33
Liver

Animal Models for Dihydrolipoamide Dehydrogenase Deficiency or affiliated genes

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Publications for Dihydrolipoamide Dehydrogenase Deficiency

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Articles related to Dihydrolipoamide Dehydrogenase Deficiency:

idTitleAuthorsYear
1
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2. (25251739)
2014
2
Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency. (23995961)
2013
3
Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome. (23478190)
2013
4
Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity. (16770810)
2006
5
Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency. (11687750)
2001
6
Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency. (8968745)
1996
7
Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. (8506365)
1993
8
Dihydrolipoamide Dehydrogenase Deficiency (25032271)
1993

Variations for Dihydrolipoamide Dehydrogenase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Dihydrolipoamide Dehydrogenase Deficiency:

67
id Symbol AA change Variation ID SNP ID
1DLDp.Lys72GluVAR_006907
2DLDp.Pro488LeuVAR_006908
3DLDp.Gly229CysVAR_015820
4DLDp.Arg495GlyVAR_015821

Clinvar genetic disease variations for Dihydrolipoamide Dehydrogenase Deficiency:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1DLDNM_000108.4(DLD): c.214A> G (p.Lys72Glu)single nucleotide variantPathogenicrs121964987GRCh37Chr 7, 107542785: 107542785
2DLDNM_000108.4(DLD): c.1463C> T (p.Pro488Leu)single nucleotide variantPathogenicrs121964988GRCh37Chr 7, 107559543: 107559543
3DLDNM_000108.4(DLD): c.685G> T (p.Gly229Cys)single nucleotide variantPathogenicrs121964990GRCh37Chr 7, 107555951: 107555951
4DLDDLD, 1-BP INS, 105AinsertionPathogenic
5DLDNM_000108.4(DLD): c.1483A> G (p.Arg495Gly)single nucleotide variantPathogenicrs121964989GRCh37Chr 7, 107559657: 107559657
6DLDNM_000108.4(DLD): c.1178T> C (p.Ile393Thr)single nucleotide variantPathogenicrs121964991GRCh37Chr 7, 107557849: 107557849
7DLDDLD, IVS9DS, G-A, +1single nucleotide variantPathogenic
8DLDNM_000108.4(DLD): c.1123G> A (p.Glu375Lys)single nucleotide variantPathogenicrs121964992GRCh37Chr 7, 107557794: 107557794
9DLDNM_000108.4(DLD): c.1081A> G (p.Met361Val)single nucleotide variantPathogenicrs121964993GRCh37Chr 7, 107557752: 107557752
10DLDNM_000108.4(DLD): c.1436A> T (p.Asp479Val)single nucleotide variantPathogenicrs397514649GRCh37Chr 7, 107559516: 107559516
11DLDNM_000108.4(DLD): c.1444A> G (p.Arg482Gly)single nucleotide variantPathogenicrs397514650GRCh37Chr 7, 107559524: 107559524
12DLDNM_000108.4(DLD): c.140T> C (p.Ile47Thr)single nucleotide variantPathogenicrs397514651GRCh37Chr 7, 107542204: 107542204

Expression for genes affiliated with Dihydrolipoamide Dehydrogenase Deficiency

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Search GEO for disease gene expression data for Dihydrolipoamide Dehydrogenase Deficiency.

Pathways for genes affiliated with Dihydrolipoamide Dehydrogenase Deficiency

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GO Terms for genes affiliated with Dihydrolipoamide Dehydrogenase Deficiency

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Sources for Dihydrolipoamide Dehydrogenase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet