MCID: DSR055
MIFTS: 18

Disorder of Galactose Metabolism

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Disorder of Galactose Metabolism

MalaCards integrated aliases for Disorder of Galactose Metabolism:

Name: Disorder of Galactose Metabolism 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

ICD10 32 E74.2
ICD10 via Orphanet 33 E74.2
UMLS via Orphanet 72 C0342745
Orphanet 58 ORPHA308467

Summaries for Disorder of Galactose Metabolism

MalaCards based summary : Disorder of Galactose Metabolism is related to galactosemia i and galactosemia ii. An important gene associated with Disorder of Galactose Metabolism is GALT (Galactose-1-Phosphate Uridylyltransferase), and among its related pathways/superpathways is Galactose metabolism. Affiliated tissues include bone, brain and small intestine.

Related Diseases for Disorder of Galactose Metabolism

Diseases related to Disorder of Galactose Metabolism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 galactosemia i 31.8 GALT GALM
2 galactosemia ii 10.3
3 galactosemia iii 10.3
4 generalized galactose epimerase deficiency 10.3
5 erythrocyte galactose epimerase deficiency 10.3
6 cataract 9.9
7 classic galactosemia and clinical variant galactosemia 9.9

Graphical network of the top 20 diseases related to Disorder of Galactose Metabolism:



Diseases related to Disorder of Galactose Metabolism

Symptoms & Phenotypes for Disorder of Galactose Metabolism

Drugs & Therapeutics for Disorder of Galactose Metabolism

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Galactosaemia, a Modifiable Multi-system Glycosylation Disorder? Completed NCT02218632

Search NIH Clinical Center for Disorder of Galactose Metabolism

Genetic Tests for Disorder of Galactose Metabolism

Anatomical Context for Disorder of Galactose Metabolism

MalaCards organs/tissues related to Disorder of Galactose Metabolism:

40
Bone, Brain, Small Intestine, Liver

Publications for Disorder of Galactose Metabolism

Articles related to Disorder of Galactose Metabolism:

(show all 35)
# Title Authors PMID Year
1
Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study. 61
30994193 2019
2
Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects. 61
29671189 2018
3
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia. 61
29350350 2018
4
Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants. 61
28374897 2018
5
Molecular basis and clinical presentation of classic galactosemia in a Croatian population. 61
29252199 2018
6
Impaired fertility and motor function in a zebrafish model for classic galactosemia. 61
28913702 2018
7
A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family. 61
28450132 2017
8
Sweet and sour: an update on classic galactosemia. 61
28281081 2017
9
Gastrointestinal Health in Classic Galactosemia. 61
27363831 2017
10
Evidence of oxidative stress in brain and liver of young rats submitted to experimental galactosemia. 61
27389247 2016
11
Galactosaemia: an unusual cause of chronic bilirubin encephalopathy. 61
25618877 2015
12
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations. 61
23924834 2013
13
Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications. 61
23022339 2012
14
A case of classical galactosemia: identification and characterization of 3 distinct mutations in galactose-1-phosphate uridyl transferase (GALT) gene in a single family. 61
21188552 2011
15
The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population. 61
21059483 2011
16
Two familial cases of high blood galactose of unknown aetiology. 61
16988899 2006
17
Effect of calcium, vitamins K1 and D3 on bone in galactosemia. 61
16782422 2006
18
Classical galactosaemia revisited. 61
16838075 2006
19
Galactosemia in Thai patient at Phramongkutklao Hospital: a case report. 61
16858969 2005
20
Identification of novel mutations in classical galactosemia. 61
15841485 2005
21
Body composition in children with galactosaemia. 61
16435185 2005
22
Bone metabolism in galactosemia. 61
15454106 2004
23
Living with classical galactosemia: health-related quality of life consequences. 61
15121984 2004
24
The impact of galactosaemia on quality of life--a pilot study. 61
15669675 2004
25
[From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency]. 61
14753129 2004
26
Clinical features of galactokinase deficiency: a review of the literature. 61
12705493 2002
27
Galactosaemia in an infant: case report. 61
10750511 1999
28
[Measurement of the erythrocyte galactokinase activity in patients with presenile and senile idiopathic cataract. Preliminary study]. 61
2073390 1990
29
Ophthalmic findings in classical galactosemia--a screened population. 61
2760788 1989
30
The Philadelphia variant of galactokinase in human erythrocytes: physicochemical and catalytic properties. 61
3168287 1988
31
Galactose-1-P-uridyl transferase activity in patients with congenital and infantile cataract. 61
2830571 1987
32
Galactose intolerance and the risk of cataract. 61
7093182 1982
33
[Sepsis due to E. coli in newborns with galactose intolerance (author's transl)]. 61
7017551 1981
34
[Disorder of galactose metabolism and damage of the small intestine. Possible causal relationship based on the analysis of 40 pediatric cases]. 61
673388 1978
35
[Activity of enzymes of galactose metabolism in so-called congenital cataract (author's transl)]. 61
164335 1975

Variations for Disorder of Galactose Metabolism

Expression for Disorder of Galactose Metabolism

Search GEO for disease gene expression data for Disorder of Galactose Metabolism.

Pathways for Disorder of Galactose Metabolism

Pathways related to Disorder of Galactose Metabolism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.71 GALT GALM

GO Terms for Disorder of Galactose Metabolism

Biological processes related to Disorder of Galactose Metabolism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.16 GALT GALM
2 galactose metabolic process GO:0006012 8.96 GALT GALM
3 galactose catabolic process via UDP-galactose GO:0033499 8.62 GALT GALM

Sources for Disorder of Galactose Metabolism

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
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