MCID: DHY010
MIFTS: 33

Dihydrolipoamide Dehydrogenase Deficiency 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 51 23 47 25 53 69 12
Dld Deficiency 23 47 25 53 69
E3 Deficiency 23 47 25 69
Lactic Acidosis Due to Lipoamide Dehydrogenase Deficiency 25 69
E3-Deficient Maple Syrup Urine Disease 47 53
Pyruvate Dehydrogenase E3 Deficiency 47 53
Maple Syrup Urine Disease, Type Iii 47 25
Lipoamide Dehydrogenase Deficiency 23 25
 
Maple Syrup Urine Disease Type Iii 69 26
Lactic Acidosis, Congenital Infantile, Due to Lad Deficiency 67
Nadh Cytochrome B5 Reductase Deficiency 67
Dihydrolipoyl Dehydrogenase Deficiency 25
Lactic Acidosis Due to Lad Deficiency 25
Maple Syrup Urine Disease Type 3 24
Msud Type Iii 69
Dldd 69

Characteristics:

Orphanet epidemiological data:

53
dihydrolipoamide dehydrogenase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adolescent,late childhood

HPO:

63
dihydrolipoamide dehydrogenase deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM51 246900
Orphanet53 ORPHA2394
ICD10 via Orphanet30 E74.4

Summaries for Dihydrolipoamide Dehydrogenase Deficiency

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NIH Rare Diseases:47 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 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: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:51 DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of... (246900) more...

UniProtKB/Swiss-Prot:69 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:70 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 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:

 63 (show all 20)
id Description HPO Frequency HPO Source Accession
1 global developmental delay63 hallmark (90%) HP:0001263
2 aminoaciduria63 hallmark (90%) HP:0003355
3 microcephaly63 typical (50%) HP:0000252
4 muscular hypotonia63 typical (50%) HP:0001252
5 gait disturbance63 typical (50%) HP:0001288
6 hepatomegaly63 typical (50%) HP:0002240
7 cognitive impairment63 typical (50%) HP:0100543
8 hepatic failure63 occasional (7.5%) HP:0001399
9 hypoglycemia63 occasional (7.5%) HP:0001943
10 decreased liver function63 rare (5%) HP:0001410
11 elevated hepatic transaminases63 rare (5%) HP:0002910
12 seizures63 HP:0001250
13 ataxia63 HP:0001251
14 lethargy63 HP:0001254
15 encephalopathy63 HP:0001298
16 dystonia63 HP:0001332
17 hypertrophic cardiomyopathy63 HP:0001639
18 metabolic acidosis63 HP:0001942
19 lactic acidosis63 HP:0003128
20 feeding difficulties63 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 326
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:

35
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
Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte. (27896107)
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:

69
id Symbol AA change Variation ID SNP ID
1DLDp.Lys72GluVAR_006907rs121964987
2DLDp.Pro488LeuVAR_006908rs121964988
3DLDp.Gly229CysVAR_015820rs121964990
4DLDp.Arg495GlyVAR_015821rs121964989
5DLDp.Ile47ThrVAR_076985
6DLDp.Met361ValVAR_076987rs121964993
7DLDp.Glu375LysVAR_076988rs121964992
8DLDp.Ile393ThrVAR_076989
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, 105AinsertionPathogenicChr na, -1: -1
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, +1SNVPathogenicChr na, -1: -1
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_000108.3: c.104dupAduplicationLikely pathogenicChr na, -1: -1
11DLDNM_000108.3: c.112C> TSNVLikely pathogenicChr na, -1: -1
12DLDNM_000108.3: c.633dupAduplicationLikely pathogenicChr na, -1: -1
13DLDNM_000108.3: c.223dupAduplicationLikely pathogenicChr na, -1: -1
14DLDNM_000108.3: c.1520_1523delTCAAdeletionLikely pathogenicChr na, -1: -1
15DLDNM_000108.3: c.82delTdeletionLikely pathogenicChr na, -1: -1
16DLDNM_000108.3: c.39+1G> ASNVLikely pathogenicChr na, -1: -1
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet