MCID: VLN001
MIFTS: 15

Valinemia

Categories: Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Valinemia

MalaCards integrated aliases for Valinemia:

Name: Valinemia 58 77 54 74
Valine Transaminase Deficiency 58 54
Hypervalinemia 58 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
valinemia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Valinemia

NIH Rare Diseases : 54 Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acidvaline 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. Related phenotypes are muscle weakness and failure to thrive

Wikipedia : 77 Hypervalinemia, is a rare autosomal recessive metabolic disorder in which urinary and serum levels of... more...

Description 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

Symptoms & Phenotypes for Valinemia

Human phenotypes related to Valinemia:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 33 HP:0001324
2 failure to thrive 33 HP:0001508
3 vomiting 33 HP:0002013
4 drowsiness 33 HP:0002329
5 hyperkinesis 33 HP:0002487
6 hypervalinemia 33 HP:0010910

Symptoms via clinical synopsis from OMIM:

58
Muscle:
muscle weakness

G I:
vomiting

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

Growth:
failure to thrive

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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