Hypervalinemia and Hyperleucine-Isoleucinemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hypervalinemia and Hyperleucine-Isoleucinemia

MalaCards integrated aliases for Hypervalinemia and Hyperleucine-Isoleucinemia:

Name: Hypervalinemia and Hyperleucine-Isoleucinemia ⁵⁷ ⁷³ ⁶

Hypervalinemia or Hyperleucine-Isoleucinemia ⁵⁷ ⁷³

Branched-Chain Aminotransferase Deficiency ⁵⁷ ⁷³

Hvli ⁵⁷ ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
based on one reported patient (last reviewed april 2020)
response to pharmacologic dose of b6 (the cofactor for bcat2)

HPO:

³¹

hypervalinemia and hyperleucine-isoleucinemia:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618850

MeSH ⁴⁴ D000592

MedGen ⁴¹ C5394277 CN280851

SNOMED-CT via HPO ⁶⁸ 24013007 25064002 258211005 more

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Summaries for Hypervalinemia and Hyperleucine-Isoleucinemia

OMIM® : ⁵⁷ Hypervalinemia and hyperleucine-isoleucinemia (HVLI) is a branched-chain amino acid metabolic disorder characterized by highly elevated plasma valine and leucine concentrations. The patient presented in adulthood with headache and mild memory impairment, and had abnormal symmetric white matter signals on brain MRI (Wang et al., 2015). (618850) (Updated 05-Mar-2021)

MalaCards based summary : Hypervalinemia and Hyperleucine-Isoleucinemia, also known as hypervalinemia or hyperleucine-isoleucinemia, is related to hyperleucine-isoleucinemia and maple syrup urine disease. An important gene associated with Hypervalinemia and Hyperleucine-Isoleucinemia is BCAT2 (Branched Chain Amino Acid Transaminase 2), and among its related pathways/superpathways are Glucose / Energy Metabolism and Carbon metabolism. Related phenotypes are headache and brisk reflexes

UniProtKB/Swiss-Prot : ⁷³ Hypervalinemia and hyperleucine-isoleucinemia: An autosomal recessive metabolic disorder characterized by highly elevated plasma concentrations of valine and leucine. Affected individuals suffer from headache and mild memory impairment.

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Related Diseases for Hypervalinemia and Hyperleucine-Isoleucinemia

Diseases related to Hypervalinemia and Hyperleucine-Isoleucinemia via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	hyperleucine-isoleucinemia	30.0	BCAT2 BCAT1
2	maple syrup urine disease	29.8	BCAT2 BCAT1
3	autosomal recessive disease	10.4

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Symptoms & Phenotypes for Hypervalinemia and Hyperleucine-Isoleucinemia

Human phenotypes related to Hypervalinemia and Hyperleucine-Isoleucinemia:

³¹ (show all 8)

#	Description	HPO Frequency	HPO Source Accession
1	headache ³¹	very rare (1%)	HP:0002315
2	brisk reflexes ³¹	very rare (1%)	HP:0001348
3	increased csf protein ³¹	very rare (1%)	HP:0002922
4	hyperisoleucinemia ³¹	very rare (1%)	HP:0010913
5	hoffmann sign ³¹	very rare (1%)	HP:0031993
6	elevated serum alanine aminotransferase ³¹	very rare (1%)	HP:0031964
7	hypervalinemia ³¹	very rare (1%)	HP:0010910
8	hyperleucinemia ³¹	very rare (1%)	HP:0010911

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Neurologic:
headache
moderate amplitude chronic waves seen on eeg
symmetric bright signals on t2 and flair seen on mri
memory impairment, mild
borderline iq (improved with b6 treatment)

Laboratory Abnormalities:
markedly increased valine in plasma
moderately increased leucine-isoleucine in plasma

Clinical features from OMIM®:

618850 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Hypervalinemia and Hyperleucine-Isoleucinemia

Search Clinical Trials , NIH Clinical Center for Hypervalinemia and Hyperleucine-Isoleucinemia

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Genetic Tests for Hypervalinemia and Hyperleucine-Isoleucinemia

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Anatomical Context for Hypervalinemia and Hyperleucine-Isoleucinemia

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Publications for Hypervalinemia and Hyperleucine-Isoleucinemia

Articles related to Hypervalinemia and Hyperleucine-Isoleucinemia:

#	Title	Authors	PMID	Year
1	Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene. ⁵⁷ ⁶ ⁶¹	Wang XL...Jia JP	25653144	2015
2	Effects of manipulating volume and intensity training in masters swimmers. ⁶¹	Pugliese L...Marzorati M	25710182	2015
3	The effect of high- vs. low-intensity training on aerobic capacity in well-trained male middle-distance runners. ⁶¹	Enoksen E...Tonnessen E	20647950	2011
4	Long-term changes in high-voltage impedance of defibrillating leads. ⁶¹	Val-Mejias JE...Ramadas S	19250081	2009
5	A Chemical and Toxicological Comparison of Urban Air PM10 Collected During Winter and Spring in Finland. ⁶¹	Salonen RO...Koutrakis P	26368524	2000

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Genes for Hypervalinemia and Hyperleucine-Isoleucinemia

Genes related to Hypervalinemia and Hyperleucine-Isoleucinemia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BCAT2	Branched Chain Amino Acid Transaminase 2	Protein Coding	957.8	Molecular basis known ⁵⁷ Pathogenic ⁶ Unconfirmed association ⁵⁷ GeneCards inferred via : Variants (show sections)	25653144
2	BCAT1	Branched Chain Amino Acid Transaminase 1	Protein Coding	8.53	GeneCards inferred via : Summaries (show sections)

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Variations for Hypervalinemia and Hyperleucine-Isoleucinemia

ClinVar genetic disease variations for Hypervalinemia and Hyperleucine-Isoleucinemia:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	BCAT2	NM_001190.4(BCAT2):c.509G>A (p.Arg170Gln)	SNV	Pathogenic	869184		19:49303260-49303260	19:48800003-48800003
2	BCAT2	BCAT2, GLU264LYS	Variation	Pathogenic	869185

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Expression for Hypervalinemia and Hyperleucine-Isoleucinemia

Search GEO for disease gene expression data for Hypervalinemia and Hyperleucine-Isoleucinemia.

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Pathways for Hypervalinemia and Hyperleucine-Isoleucinemia

Pathways related to Hypervalinemia and Hyperleucine-Isoleucinemia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Glucose / Energy Metabolism ⁴	11.86	BCAT2 BCAT1
2	Carbon metabolism ³⁶ Show member pathways 2-Oxocarboxylic acid metabolism ³⁶ Biosynthesis of amino acids ³⁶ formaldehyde oxidation ¹	11.65	BCAT2 BCAT1
3	Biosynthesis of cofactors ³⁶ Show member pathways Ubiquinone and other terpenoid-quinone biosynthesis ³⁶	11.48	BCAT2 BCAT1
4	Sulfur amino acid metabolism ⁶⁵ Show member pathways Cysteine and methionine metabolism ³⁶ Degradation of cysteine and homocysteine ⁶⁵ L-serine degradation ¹ methionine salvage cycle III ¹ Methionine salvage pathway ⁶⁵ S-methyl-5-thioadenosine degradation ¹ spermidine biosynthesis ¹ Sulfide oxidation to sulfate ⁶⁵ sulfite oxidation ¹ taurine biosynthesis ¹ Trans-sulfuration pathway ¹ Valine, leucine and isoleucine biosynthesis ³⁶	11.26	BCAT2 BCAT1
5	Valine, leucine and isoleucine degradation ³⁶ Show member pathways 4-aminobutyrate degradation ¹ beta-alanine degradation ¹ Branched-chain amino acid catabolism ⁶⁵ Carnitine synthesis ⁶⁵ isoleucine degradation ¹ L-carnitine biosynthesis ¹ leucine degradation ¹ valine degradation ¹	11.03	BCAT2 BCAT1
6	Pantothenate and CoA biosynthesis ³⁶	9.95	BCAT2 BCAT1

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GO Terms for Hypervalinemia and Hyperleucine-Isoleucinemia

Biological processes related to Hypervalinemia and Hyperleucine-Isoleucinemia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular amino acid biosynthetic process	GO:0008652	9.37	BCAT2 BCAT1
2	branched-chain amino acid catabolic process	GO:0009083	9.32	BCAT2 BCAT1
3	valine biosynthetic process	GO:0009099	9.26	BCAT2 BCAT1
4	leucine biosynthetic process	GO:0009098	9.16	BCAT2 BCAT1
5	branched-chain amino acid biosynthetic process	GO:0009082	8.96	BCAT2 BCAT1
6	branched-chain amino acid metabolic process	GO:0009081	8.62	BCAT2 BCAT1

Molecular functions related to Hypervalinemia and Hyperleucine-Isoleucinemia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	catalytic activity	GO:0003824	9.37	BCAT2 BCAT1
2	transaminase activity	GO:0008483	9.32	BCAT2 BCAT1
3	L-isoleucine transaminase activity	GO:0052656	9.26	BCAT2 BCAT1
4	L-valine transaminase activity	GO:0052655	9.16	BCAT2 BCAT1
5	L-leucine transaminase activity	GO:0052654	8.96	BCAT2 BCAT1
6	branched-chain-amino-acid transaminase activity	GO:0004084	8.62	BCAT2 BCAT1

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Sources for Hypervalinemia and Hyperleucine-Isoleucinemia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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²⁰ GARD

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

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⁴⁴ MeSH

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⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Hypervalinemia and Hyperleucine-Isoleucinemia (HVLI)

Aliases & Classifications for Hypervalinemia and Hyperleucine-Isoleucinemia

MalaCards integrated aliases for Hypervalinemia and Hyperleucine-Isoleucinemia:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Hypervalinemia and Hyperleucine-Isoleucinemia

Related Diseases for Hypervalinemia and Hyperleucine-Isoleucinemia

Diseases related to Hypervalinemia and Hyperleucine-Isoleucinemia via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Hypervalinemia and Hyperleucine-Isoleucinemia

Human phenotypes related to Hypervalinemia and Hyperleucine-Isoleucinemia:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Hypervalinemia and Hyperleucine-Isoleucinemia

Genetic Tests for Hypervalinemia and Hyperleucine-Isoleucinemia

Anatomical Context for Hypervalinemia and Hyperleucine-Isoleucinemia

Publications for Hypervalinemia and Hyperleucine-Isoleucinemia

Articles related to Hypervalinemia and Hyperleucine-Isoleucinemia:

Genes for Hypervalinemia and Hyperleucine-Isoleucinemia

Genes related to Hypervalinemia and Hyperleucine-Isoleucinemia (1 elite genes):

Variations for Hypervalinemia and Hyperleucine-Isoleucinemia

ClinVar genetic disease variations for Hypervalinemia and Hyperleucine-Isoleucinemia:

Expression for Hypervalinemia and Hyperleucine-Isoleucinemia

Pathways for Hypervalinemia and Hyperleucine-Isoleucinemia

Pathways related to Hypervalinemia and Hyperleucine-Isoleucinemia according to GeneCards Suite gene sharing:

GO Terms for Hypervalinemia and Hyperleucine-Isoleucinemia

Biological processes related to Hypervalinemia and Hyperleucine-Isoleucinemia according to GeneCards Suite gene sharing:

Molecular functions related to Hypervalinemia and Hyperleucine-Isoleucinemia according to GeneCards Suite gene sharing:

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