MCID: DHY010
MIFTS: 35

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 49 11 21 45 23 51 67
Dld Deficiency 21 45 23 51 67
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
Maple Syrup Urine Disease, Type Iii 45 23
Lipoamide Dehydrogenase Deficiency 21 23
 
Maple Syrup Urine Disease Type Iii 67 24
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 3 22
Msud Type Iii 67
Dldd 67

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

HPO:

61
dihydrolipoamide dehydrogenase deficiency:
Onset and clinical course: variable expressivity
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 246900
Orphanet51 2394
ICD10 via Orphanet28 E74.4
UMLS65 C0268193, C3492932

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 dihydrolipoamide dehydrogenase e3 deficiency and maple syrup urine disease, type ii, and has symptoms including aminoaciduria, global developmental delay and cognitive impairment. An important gene associated with Dihydrolipoamide Dehydrogenase Deficiency is DLD (Dihydrolipoamide Dehydrogenase). Affiliated tissues include liver, prostate and breast.

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.

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...

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 deficiency12.4
2maple syrup urine disease, type ii11.9
3lacticacidemia due to pdx1 deficiency11.4
4pulmonary valve stenosis10.3
5congenital pulmonary valve stenosis10.3
6testicular cancer10.2
7mitochondrial disorders10.2
8malakoplakia10.2
9pancreatitis9.9

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

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

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

Anatomical Context for Dihydrolipoamide Dehydrogenase Deficiency

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MalaCards organs/tissues related to Dihydrolipoamide Dehydrogenase Deficiency:

33
Liver, Prostate, Breast, Pituitary

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
CAG repeat length polymorphism in the androgen receptor gene and breast cancer risk: data on Indian women and survey from the world. (21107681)
2011
2
Cutaneous side effects of EGF-receptor inhibition and their management]. (16205868)
2006
3
Three-dimensional solution structure of oryzacystatin-I, a cysteine proteinase inhibitor of the rice, Oryza sativa L. japonica. (11101290)
2000
4
Temporal evolution of neuronal changes in cerebral hypoxia-ischemia in developing rats: a quantitative light microscopic study. (9729365)
1998
5
Pituitary apoplexy of a gonadotroph adenoma following gonadotrophin releasing hormone agonist therapy for prostatic cancer. (9413812)
1997
6
A phase I study of topotecan followed sequentially by doxorubicin in patients with advanced malignancies. (9815746)
1997
7
Melatonin and serotonin directly regulate oxytocin, insulin-like growth factor-I and progesterone secretion by cultured human granulosa cells. (8714015)
1995
8
Posttranslational regulation of keratins: degradation of mouse and human keratins 18 and 8. (2471065)
1989

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