MCID: DSR055
MIFTS: 11

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 71 C0342745
Orphanet 58 ORPHA308467

Summaries for Disorder of Galactose Metabolism

MalaCards based summary : Disorder of Galactose Metabolism is related to galactosemia i. An important gene associated with Disorder of Galactose Metabolism is GALM (Galactose Mutarotase). Affiliated tissues include 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 11.2

Symptoms & Phenotypes for Disorder of Galactose Metabolism

Drugs & Therapeutics for Disorder of Galactose Metabolism

Search Clinical Trials , 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
Small Intestine

Publications for Disorder of Galactose Metabolism

Articles related to Disorder of Galactose Metabolism:

(show all 38)
# Title Authors PMID Year
1
Current and Future Treatments for Classic Galactosemia. 61
33525536 2021
2
Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome. 61
33199205 2020
3
Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study. 61
30994193 2019
4
Galactose-1-Phosphate Uridyltransferase Activities in Different Genotypes: A Retrospective Analysis of 927 Samples. 61
33636947 2018
5
Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects. 61
29671189 2018
6
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia. 61
29350350 2018
7
Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants. 61
28374897 2018
8
Molecular basis and clinical presentation of classic galactosemia in a Croatian population. 61
29252199 2018
9
Impaired fertility and motor function in a zebrafish model for classic galactosemia. 61
28913702 2018
10
A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family. 61
28450132 2017
11
Sweet and sour: an update on classic galactosemia. 61
28281081 2017
12
Gastrointestinal Health in Classic Galactosemia. 61
27363831 2017
13
Evidence of oxidative stress in brain and liver of young rats submitted to experimental galactosemia. 61
27389247 2016
14
Galactosaemia: an unusual cause of chronic bilirubin encephalopathy. 61
25618877 2015
15
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations. 61
23924834 2013
16
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
17
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
18
The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population. 61
21059483 2011
19
Two familial cases of high blood galactose of unknown aetiology. 61
16988899 2006
20
Effect of calcium, vitamins K1 and D3 on bone in galactosemia. 61
16782422 2006
21
Classical galactosaemia revisited. 61
16838075 2006
22
Galactosemia in Thai patient at Phramongkutklao Hospital: a case report. 61
16858969 2005
23
Identification of novel mutations in classical galactosemia. 61
15841485 2005
24
Body composition in children with galactosaemia. 61
16435185 2005
25
Bone metabolism in galactosemia. 61
15454106 2004
26
Living with classical galactosemia: health-related quality of life consequences. 61
15121984 2004
27
The impact of galactosaemia on quality of life--a pilot study. 61
15669675 2004
28
[From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency]. 61
14753129 2004
29
Clinical features of galactokinase deficiency: a review of the literature. 61
12705493 2002
30
Galactosaemia in an infant: case report. 61
10750511 1999
31
[Measurement of the erythrocyte galactokinase activity in patients with presenile and senile idiopathic cataract. Preliminary study]. 61
2073390 1990
32
Ophthalmic findings in classical galactosemia--a screened population. 61
2760788 1989
33
The Philadelphia variant of galactokinase in human erythrocytes: physicochemical and catalytic properties. 61
3168287 1988
34
Galactose-1-P-uridyl transferase activity in patients with congenital and infantile cataract. 61
2830571 1987
35
Galactose intolerance and the risk of cataract. 61
7093182 1982
36
[Sepsis due to E. coli in newborns with galactose intolerance (author's transl)]. 61
7017551 1981
37
[Disorder of galactose metabolism and damage of the small intestine. Possible causal relationship based on the analysis of 40 pediatric cases]. 61
673388 1978
38
[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

GO Terms for Disorder of Galactose Metabolism

Sources for Disorder of Galactose Metabolism

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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