MCID: DRT002
MIFTS: 15

Duarte Variant Galactosemia

Categories: Rare diseases

Aliases & Classifications for Duarte Variant Galactosemia

MalaCards integrated aliases for Duarte Variant Galactosemia:

Name: Duarte Variant Galactosemia 24
Duarte Galactosemia 24 53
Galactosemia, Duarte Variant 72

Classifications:



External Ids:

UMLS 72 C3278146

Summaries for Duarte Variant Galactosemia

NIH Rare Diseases : 53 Duarte galactosemia is a mild variant of classic galactosemia, a condition that affects how the body processes galactose (a simple sugar found in milk, dairy products, and other foods). Unlike the other forms of galactosemia, most affected infants do not develop any concerning signs or symptoms even when breastfed or on a galactose-containing formula. Some may develop jaundice, but this symptom typically resolves quickly when the baby is switched to a low-galactose formula. Duarte galactosemia is caused by changes (mutations) in the GALT gene and is inherited in an autosomal recessive manner. People with Duarte galactosemia, specifically, typically have one severe GALT gene mutation and one milder GALT gene mutation, known as the "Duarte variant." Experts disagree regarding the risks and long-term complications of Duarte galactosemia and whether or not dietary interventions are needed. As a result, there is no standard treatment for infants with the condition. Some healthcare providers recommend partial to complete dietary restriction of milk and other high galactose foods for affected infants, but others do not.

MalaCards based summary : Duarte Variant Galactosemia, also known as duarte galactosemia, is related to galactosemia and classic galactosemia and clinical variant galactosemia. An important gene associated with Duarte Variant Galactosemia is GALT (Galactose-1-Phosphate Uridylyltransferase). Affiliated tissues include testes.

Wikipedia : 75 Duarte galactosemia is an inherited condition associated with diminished ability to metabolize galactose... more...

GeneReviews: NBK258640

Related Diseases for Duarte Variant Galactosemia

Diseases related to Duarte Variant Galactosemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 galactosemia 10.6
2 classic galactosemia and clinical variant galactosemia 10.4
3 galactokinase deficiency 10.3
4 alacrima, achalasia, and mental retardation syndrome 10.3
5 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.3
6 autism spectrum disorder 10.3
7 cerebral palsy 10.3
8 cataract 10.3

Graphical network of the top 20 diseases related to Duarte Variant Galactosemia:



Diseases related to Duarte Variant Galactosemia

Symptoms & Phenotypes for Duarte Variant Galactosemia

Drugs & Therapeutics for Duarte Variant Galactosemia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Intervention and Outcomes in Duarte Galactosemia Completed NCT02519504

Search NIH Clinical Center for Duarte Variant Galactosemia

Genetic Tests for Duarte Variant Galactosemia

Anatomical Context for Duarte Variant Galactosemia

MalaCards organs/tissues related to Duarte Variant Galactosemia:

41
Testes

Publications for Duarte Variant Galactosemia

Articles related to Duarte Variant Galactosemia:

(show all 35)
# Title Authors PMID Year
1
Developmental outcomes of children with Duarte galactosemia: exploring the bases of an apparent contradiction in the literature. 38 4
31160755 2019
2
Answering a Question Older Than Most Pediatricians: What to Do About Duarte Variant Galactosemia. 38 4
30593448 2019
3
Developmental Outcomes in Duarte Galactosemia. 38 4
30593450 2019
4
Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead. 38 4
24718839 2015
5
Ovarian function in Duarte galactosemia. 38 4
21719007 2011
6
Duarte galactosemia: how sweet is it? 38 4
20489130 2010
7
Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate. 38 4
20489133 2010
8
Long-term speech and language developmental issues among children with Duarte galactosemia. 38 4
19904210 2009
9
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase. 38 4
19224951 2009
10
Congenital portosystemic shunts in children: recognition, evaluation, and management. 4
23397528 2012
11
Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening. 4
18976948 2008
12
Structure and function of enzymes of the Leloir pathway for galactose metabolism. 4
12923184 2003
13
Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia. 4
10535394 1999
14
Characterization of the N314D allele of human galactose-1-phosphate uridylyltransferase using a yeast expression system. 4
8825075 1995
15
Three-dimensional structure of galactose-1-phosphate uridylyltransferase from Escherichia coli at 1.8 A resolution. 4
7669762 1995
16
Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants. 38
31194895 2019
17
RE: Commentary on Developmental Outcomes in Duarte Galactosemia. 38
31040192 2019
18
Reactions to clinical reinterpretation of a gene variant by participants in a sequencing study. 38
28771245 2018
19
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations. 38
27176039 2016
20
Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study. 38
25681083 2015
21
Duarte Variant Galactosemia 38
25473725 2014
22
Detection of common mutations in the GALT gene through ARMS. 38
22963887 2012
23
Neonatal hemochromatosis: a case report with unique presentation. 38
21980852 2011
24
Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary. 38
20213376 2010
25
Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype. 38
15670721 2005
26
Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population. 38
12521227 2002
27
Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test. 38
11919338 2002
28
The molecular biology of galactosemia. 38
11261429 1998
29
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. 38
9222760 1997
30
Determinants of basal follicle-stimulating hormone levels in premenopausal women. 38
7962282 1994
31
A common mutation associated with the Duarte galactosemia allele. 38
8198125 1994
32
On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT). 38
8112740 1994
33
Newborn screening for galactosemia: a new method used in Manitoba. 38
2748263 1989
34
Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies. 38
632977 1978
35
Duarte variant-galactosemia heterozygote. Repository identification No. GM-1996. 38
891264 1977

Variations for Duarte Variant Galactosemia

Expression for Duarte Variant Galactosemia

Search GEO for disease gene expression data for Duarte Variant Galactosemia.

Pathways for Duarte Variant Galactosemia

GO Terms for Duarte Variant Galactosemia

Sources for Duarte Variant Galactosemia

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