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 50 22 46 24 52 68 12
Dld Deficiency 22 46 24 52 68
E3 Deficiency 22 46 24 68
Lactic Acidosis Due to Lipoamide Dehydrogenase Deficiency 24 68
E3-Deficient Maple Syrup Urine Disease 46 52
Pyruvate Dehydrogenase E3 Deficiency 46 52
Maple Syrup Urine Disease, Type Iii 46 24
Lipoamide Dehydrogenase Deficiency 22 24
 
Maple Syrup Urine Disease Type Iii 68 25
Lactic Acidosis, Congenital Infantile, Due to Lad Deficiency 66
Nadh Cytochrome B5 Reductase Deficiency 66
Dihydrolipoyl Dehydrogenase Deficiency 24
Lactic Acidosis Due to Lad Deficiency 24
Maple Syrup Urine Disease Type 3 23
Msud Type Iii 68
Dldd 68

Characteristics:

Orphanet epidemiological data:

52
dihydrolipoamide dehydrogenase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adolescent,late childhood

HPO:

62
dihydrolipoamide dehydrogenase deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity


Classifications:



External Ids:

OMIM50 246900
Orphanet52 ORPHA2394
ICD10 via Orphanet29 E74.4

Summaries for Dihydrolipoamide Dehydrogenase Deficiency

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NIH Rare Diseases:46 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.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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:50 DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of... (246900) more...

GeneReviews summary 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 deficiency12.1
2maple syrup urine disease, type ii11.5
3lacticacidemia due to pdx1 deficiency11.0
4acute liver failure10.0
5myopathy10.0

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

HPO human phenotypes related to Dihydrolipoamide Dehydrogenase Deficiency:

(show all 24)
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 microcephaly HP:0000252
14 seizures HP:0001250
15 ataxia HP:0001251
16 muscular hypotonia HP:0001252
17 lethargy HP:0001254
18 encephalopathy HP:0001298
19 dystonia HP:0001332
20 hypertrophic cardiomyopathy HP:0001639
21 metabolic acidosis HP:0001942
22 hypoglycemia HP:0001943
23 lactic acidosis HP:0003128
24 feeding difficulties 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 325
2 Maple Syrup Urine Disease Type 323 DLD

Anatomical Context for Dihydrolipoamide Dehydrogenase Deficiency

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MalaCards organs/tissues related to Dihydrolipoamide Dehydrogenase Deficiency:

34
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
Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome. (23478190)
2013
3
Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency. (23995961)
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:

68
id Symbol AA change Variation ID SNP ID
1DLDp.Lys72GluVAR_006907rs121964987
2DLDp.Pro488LeuVAR_006908rs121964988
3DLDp.Gly229CysVAR_015820rs121964990
4DLDp.Arg495GlyVAR_015821rs121964989

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet