DLDD
MCID: DHY010
MIFTS: 32

Dihydrolipoamide Dehydrogenase Deficiency (DLDD) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Nephrological diseases

Aliases & Classifications for Dihydrolipoamide Dehydrogenase Deficiency

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Aliases & Descriptions for Dihydrolipoamide Dehydrogenase Deficiency:

Name: Dihydrolipoamide Dehydrogenase Deficiency 52 23 48 25 54 70 12
Dld Deficiency 23 48 25 54 70
E3 Deficiency 23 48 25 70
Lactic Acidosis Due to Lipoamide Dehydrogenase Deficiency 25 70
E3-Deficient Maple Syrup Urine Disease 48 54
Pyruvate Dehydrogenase E3 Deficiency 48 54
Maple Syrup Urine Disease, Type Iii 48 25
Lipoamide Dehydrogenase Deficiency 23 25
 
Maple Syrup Urine Disease Type Iii 70 27
Lactic Acidosis, Congenital Infantile, Due to Lad Deficiency 68
Nadh Cytochrome B5 Reductase Deficiency 68
Dihydrolipoyl Dehydrogenase Deficiency 25
Lactic Acidosis Due to Lad Deficiency 25
Maple Syrup Urine Disease Type 3 24
Msud Type Iii 70
Dldd 70

Characteristics:

Orphanet epidemiological data:

54
dihydrolipoamide dehydrogenase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adolescent,late childhood

HPO:

64
dihydrolipoamide dehydrogenase deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM52 246900
Orphanet54 ORPHA2394
ICD10 via Orphanet31 E74.4

Summaries for Dihydrolipoamide Dehydrogenase Deficiency

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NIH Rare Diseases:48 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 ataxia, cyanosis and headache. An important gene associated with Dihydrolipoamide Dehydrogenase Deficiency is DLD (Dihydrolipoamide Dehydrogenase). Affiliated tissues include liver.

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:52 DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of... (246900) more...

UniProtKB/Swiss-Prot:70 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:71 Dihydrolipoamide dehydrogenase (DLD), also known as dihydrolipoyl dehydrogenase, mitochondrial, is an... more...

GeneReviews for NBK220444

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
1dihydrolipoamide dehydrogenase e3 deficiency12.0
2maple syrup urine disease, type ii11.7
3lacticacidemia due to pdx1 deficiency10.9
4acute liver failure9.9
5myopathy9.9

Graphical network of diseases related to Dihydrolipoamide Dehydrogenase Deficiency:



Diseases related to dihydrolipoamide dehydrogenase deficiency

Symptoms & Phenotypes for Dihydrolipoamide Dehydrogenase Deficiency

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Symptoms by clinical synopsis from OMIM:

246900

Clinical features from OMIM:

246900

Human phenotypes related to Dihydrolipoamide Dehydrogenase Deficiency:

 64 (show all 16)
id Description HPO Frequency HPO Source Accession
1 microcephaly64 HP:0000252
2 seizures64 HP:0001250
3 ataxia64 HP:0001251
4 muscular hypotonia64 HP:0001252
5 lethargy64 HP:0001254
6 global developmental delay64 HP:0001263
7 encephalopathy64 HP:0001298
8 dystonia64 HP:0001332
9 decreased liver function64 HP:0001410
10 hypertrophic cardiomyopathy64 HP:0001639
11 metabolic acidosis64 HP:0001942
12 hypoglycemia64 HP:0001943
13 hepatomegaly64 HP:0002240
14 elevated hepatic transaminases64 HP:0002910
15 lactic acidosis64 HP:0003128
16 feeding difficulties64 HP:0011968

UMLS symptoms related to Dihydrolipoamide Dehydrogenase Deficiency:


ataxia, cyanosis, headache, lethargy, seizures, dyspnea on exertion

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 327
2 Maple Syrup Urine Disease Type 324 DLD

Anatomical Context for Dihydrolipoamide Dehydrogenase Deficiency

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MalaCards organs/tissues related to Dihydrolipoamide Dehydrogenase Deficiency:

36
Liver

Publications for Dihydrolipoamide Dehydrogenase Deficiency

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Articles related to Dihydrolipoamide Dehydrogenase Deficiency:

idTitleAuthorsYear
1
Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte. (27896107)
2014
2
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2. (25251739)
2014
3
Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome. (23478190)
2013
4
Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency. (23995961)
2013
5
Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity. (16770810)
2006
6
Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency. (11687750)
2001
7
Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency. (8968745)
1996
8
Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. (8506365)
1993
9
Dihydrolipoamide Dehydrogenase Deficiency (25032271)
1993

Variations for Dihydrolipoamide Dehydrogenase Deficiency

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

70
id Symbol AA change Variation ID SNP ID
1DLDp.Lys72GluVAR_006907rs121964987
2DLDp.Pro488LeuVAR_006908rs121964988
3DLDp.Gly229CysVAR_015820rs121964990
4DLDp.Arg495GlyVAR_015821rs121964989
5DLDp.Ile47ThrVAR_076985rs397514651
6DLDp.Met361ValVAR_076987rs121964993
7DLDp.Glu375LysVAR_076988rs121964992
8DLDp.Ile393ThrVAR_076989rs121964991
9DLDp.Asp479ValVAR_076990rs397514649
10DLDp.Arg482GlyVAR_076991rs397514650

Clinvar genetic disease variations for Dihydrolipoamide Dehydrogenase Deficiency:

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1DLDNM_ 000108.4(DLD): c.214A> G (p.Lys72Glu)SNVPathogenicrs121964987GRCh37Chr 7, 107542785: 107542785
2DLDNM_ 000108.4(DLD): c.1463C> T (p.Pro488Leu)SNVPathogenicrs121964988GRCh37Chr 7, 107559543: 107559543
3DLDNM_ 000108.4(DLD): c.685G> T (p.Gly229Cys)SNVPathogenicrs121964990GRCh37Chr 7, 107555951: 107555951
4DLDDLD, 1-BP INS, 105AinsertionPathogenic
5DLDNM_ 000108.4(DLD): c.1483A> G (p.Arg495Gly)SNVPathogenicrs121964989GRCh37Chr 7, 107559657: 107559657
6DLDNM_ 000108.4(DLD): c.1178T> C (p.Ile393Thr)SNVPathogenicrs121964991GRCh37Chr 7, 107557849: 107557849
7DLDDLD, IVS9DS, G-A, +1SNVPathogenic
8DLDNM_ 000108.4(DLD): c.1123G> A (p.Glu375Lys)SNVPathogenicrs121964992GRCh37Chr 7, 107557794: 107557794
9DLDNM_ 000108.4(DLD): c.1081A> G (p.Met361Val)SNVPathogenicrs121964993GRCh37Chr 7, 107557752: 107557752
10DLDNM_ 000108.4(DLD): c.104dupA (p.Tyr35Terfs)duplicationLikely pathogenicrs1057516213GRCh37Chr 7, 107533709: 107533709
11DLDNM_ 000108.4(DLD): c.112C> T (p.Gln38Ter)SNVLikely pathogenicrs1057516698GRCh37Chr 7, 107533717: 107533717
12DLDNM_ 000108.4(DLD): c.633dupA (p.Val212Serfs)duplicationLikely pathogenicrs1057517016GRCh37Chr 7, 107546762: 107546762
13DLDNM_ 000108.4(DLD): c.223dupA (p.Thr75Asnfs)duplicationLikely pathogenicrs1057517214GRCh37Chr 7, 107542794: 107542794
14DLDNM_ 000108.4(DLD): c.1520_ 1523delTCAA (p.Ile507Thrfs)deletionLikely pathogenicrs1057517354GRCh37Chr 7, 107559694: 107559697
15DLDNM_ 000108.4(DLD): c.82delT (p.Ser28Leufs)deletionLikely pathogenicrs1057517380GRCh38Chr 7, 107893242: 107893242
16DLDNM_ 000108.4(DLD): c.39+1G> ASNVLikely pathogenicrs111257462GRCh38Chr 7, 107891290: 107891290
17DLDNM_ 000108.4(DLD): c.1436A> T (p.Asp479Val)SNVPathogenicrs397514649GRCh37Chr 7, 107559516: 107559516
18DLDNM_ 000108.4(DLD): c.1444A> G (p.Arg482Gly)SNVPathogenicrs397514650GRCh37Chr 7, 107559524: 107559524
19DLDNM_ 000108.4(DLD): c.140T> C (p.Ile47Thr)SNVPathogenicrs397514651GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet