HVLI
MCID: HYP866
MIFTS: 25

Hypervalinemia and Hyperleucine-Isoleucinemia (HVLI)

Categories: Genetic diseases, Metabolic diseases

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:



External Ids:

OMIM® 57 618850
MeSH 44 D000592

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.

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

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)

Drugs & Therapeutics for Hypervalinemia and Hyperleucine-Isoleucinemia

Search Clinical Trials , NIH Clinical Center 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:

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

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

Expression for Hypervalinemia and Hyperleucine-Isoleucinemia

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

Pathways for Hypervalinemia and Hyperleucine-Isoleucinemia

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

Sources for Hypervalinemia and Hyperleucine-Isoleucinemia

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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