MCID: VLN001
MIFTS: 18

Valinemia

Categories: Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Valinemia

MalaCards integrated aliases for Valinemia:

Name: Valinemia 56 74 52 71
Valine Transaminase Deficiency 56 52
Hypervalinemia 56 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
valinemia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Valinemia

NIH Rare Diseases : 52 Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine. Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive . In some cases, the condition may be life-threatening. Low muscle tone (hypotonia ), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzyme valine transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes a diet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal.

MalaCards based summary : Valinemia, also known as valine transaminase deficiency, is related to hyperleucine-isoleucinemia and maple syrup urine disease. Related phenotypes are failure to thrive and muscle weakness

Wikipedia : 74 Hypervalinemia, is a rare autosomal recessive metabolic disorder in which urinary and serum levels of... more...

More information from OMIM: 277100

Related Diseases for Valinemia

Diseases related to Valinemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperleucine-isoleucinemia 10.2
2 maple syrup urine disease 10.2
3 autosomal recessive disease 10.2

Symptoms & Phenotypes for Valinemia

Human phenotypes related to Valinemia:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 muscle weakness 31 HP:0001324
3 vomiting 31 HP:0002013
4 drowsiness 31 HP:0002329
5 hyperkinetic movements 31 HP:0002487
6 hypervalinemia 31 HP:0010910

Symptoms via clinical synopsis from OMIM:

56
Growth:
failure to thrive

G I:
vomiting

Lab:
valinemia
valinuria
no elevation of leucine and isoleucine
valine transaminase deficiency

Muscle:
muscle weakness

Neuro:
drowsiness
hyperkinesis

Clinical features from OMIM:

277100

Drugs & Therapeutics for Valinemia

Search Clinical Trials , NIH Clinical Center for Valinemia

Genetic Tests for Valinemia

Anatomical Context for Valinemia

Publications for Valinemia

Articles related to Valinemia:

# Title Authors PMID Year
1
Hypervalinemia. A defect in valine transamination. 56
6067402 1967
2
Hypervalinemia. Its metabolic lesion and therapeutic approach. 56
6066688 1967
3
IDIOPATHIC HYPERVALINEMIA: PROBABLY A NEW ENTITY OF INBORN ERROR OF VALINE METABOLISM. 56
14077060 1963
4
[Metabolic disorders of amino acids due to enzyme mutation--branched-chain amino acids]. 61
1404884 1992

Variations for Valinemia

Expression for Valinemia

Search GEO for disease gene expression data for Valinemia.

Pathways for Valinemia

GO Terms for Valinemia

Sources for Valinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....