MCID: INT262
MIFTS: 22

Intermediate Maple Syrup Urine Disease

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

Aliases & Classifications for Intermediate Maple Syrup Urine Disease

MalaCards integrated aliases for Intermediate Maple Syrup Urine Disease:

Name: Intermediate Maple Syrup Urine Disease 58 70
Intermediate Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency 58
Intermediate Bckd Deficiency 58
Intermediate Msud 58

Characteristics:

Orphanet epidemiological data:

58
intermediate maple syrup urine disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E71.0
UMLS via Orphanet 71 C1621920
Orphanet 58 ORPHA268162
UMLS 70 C1621920

Summaries for Intermediate Maple Syrup Urine Disease

MalaCards based summary : Intermediate Maple Syrup Urine Disease, also known as intermediate branched-chain alpha-ketoacid dehydrogenase deficiency, is related to maple syrup urine disease and dystonia. An important gene associated with Intermediate Maple Syrup Urine Disease is DBT (Dihydrolipoamide Branched Chain Transacylase E2), and among its related pathways/superpathways are Metabolism and Viral mRNA Translation.

Related Diseases for Intermediate Maple Syrup Urine Disease

Diseases in the Maple Syrup Urine Disease family:

Intermediate Maple Syrup Urine Disease

Diseases related to Intermediate Maple Syrup Urine Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 maple syrup urine disease 31.2 PPM1K DBT BCKDHB BCKDHA
2 dystonia 10.2
3 amino acid metabolic disorder 9.6 BCKDHB BCKDHA
4 propionic acidemia 9.5 BCKDHB BCKDHA
5 methylmalonic acidemia 9.4 BCKDHB BCKDHA
6 branched-chain keto acid dehydrogenase kinase deficiency 9.4 PPM1K BCKDHB BCKDHA
7 organic acidemia 9.3 PPM1K BCKDHB BCKDHA

Graphical network of the top 20 diseases related to Intermediate Maple Syrup Urine Disease:



Diseases related to Intermediate Maple Syrup Urine Disease

Symptoms & Phenotypes for Intermediate Maple Syrup Urine Disease

Drugs & Therapeutics for Intermediate Maple Syrup Urine Disease

Search Clinical Trials , NIH Clinical Center for Intermediate Maple Syrup Urine Disease

Genetic Tests for Intermediate Maple Syrup Urine Disease

Anatomical Context for Intermediate Maple Syrup Urine Disease

Publications for Intermediate Maple Syrup Urine Disease

Articles related to Intermediate Maple Syrup Urine Disease:

(show all 18)
# Title Authors PMID Year
1
Metformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUD. 61
27373929 2016
2
Brain-blood amino acid correlates following protein restriction in murine maple syrup urine disease. 61
24886632 2014
3
Improved amino acid, bioenergetic metabolite and neurotransmitter profiles following human amnion epithelial cell transplant in intermediate maple syrup urine disease mice. 61
23566440 2013
4
Placental stem cell correction of murine intermediate maple syrup urine disease. 61
23175463 2013
5
Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy. 61
21541722 2012
6
Disorders of amino acid metabolism associated with epilepsy. 61
21803516 2011
7
Phenylbutyrate therapy for maple syrup urine disease. 61
21098507 2011
8
Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD). 61
19699299 2009
9
Hepatocyte transplantation improves phenotype and extends survival in a murine model of intermediate maple syrup urine disease. 61
19436271 2009
10
Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease. 61
19293241 2009
11
Intermediate maple syrup urine disease: neuroimaging observations in 3 patients from South India. 61
17715290 2007
12
Production and characterization of murine models of classic and intermediate maple syrup urine disease. 61
16579849 2006
13
Neuropsychometric outcome predictors for adults with maple syrup urine disease. 61
16601892 2006
14
Maple Syrup Urine Disease 61
20301495 2006
15
Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients. 61
7883996 1995
16
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism. 61
7726385 1994
17
Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex. 61
8037208 1994
18
A distinct variant of intermediate maple syrup urine disease. 61
3978850 1985

Variations for Intermediate Maple Syrup Urine Disease

Expression for Intermediate Maple Syrup Urine Disease

Search GEO for disease gene expression data for Intermediate Maple Syrup Urine Disease.

Pathways for Intermediate Maple Syrup Urine Disease

Pathways related to Intermediate Maple Syrup Urine Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 PPM1K DBT BCKDHB BCKDHA
2
Show member pathways
13.11 PPM1K DBT BCKDHB BCKDHA
3
Show member pathways
11.33 PPM1K DBT BCKDHB BCKDHA
4
Show member pathways
11.04 DBT BCKDHB BCKDHA
5 10.96 DBT BCKDHB BCKDHA
6
Show member pathways
10.73 DBT BCKDHB BCKDHA
7
Show member pathways
9.8 DBT BCKDHB BCKDHA

GO Terms for Intermediate Maple Syrup Urine Disease

Cellular components related to Intermediate Maple Syrup Urine Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.46 PPM1K DBT BCKDHB BCKDHA
2 mitochondrial matrix GO:0005759 9.26 PPM1K DBT BCKDHB BCKDHA
3 mitochondrial alpha-ketoglutarate dehydrogenase complex GO:0005947 8.8 DBT BCKDHB BCKDHA

Biological processes related to Intermediate Maple Syrup Urine Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 branched-chain amino acid catabolic process GO:0009083 8.92 PPM1K DBT BCKDHB BCKDHA

Molecular functions related to Intermediate Maple Syrup Urine Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity GO:0003863 8.96 BCKDHB BCKDHA
2 alpha-ketoacid dehydrogenase activity GO:0003826 8.62 BCKDHB BCKDHA

Sources for Intermediate Maple Syrup Urine Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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