MCID: DRT002
MIFTS: 12

Duarte Variant Galactosemia

Categories: Rare diseases

Aliases & Classifications for Duarte Variant Galactosemia

MalaCards integrated aliases for Duarte Variant Galactosemia:

Name: Duarte Variant Galactosemia 25
Duarte Galactosemia 25 54
Galactosemia, Duarte Variant 74

Classifications:



External Ids:

UMLS 74 C3278146

Summaries for Duarte Variant Galactosemia

NIH Rare Diseases : 54 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.

Wikipedia : 77 Duarte galactosemia is an inherited condition associated with diminished ability to metabolize... 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 10.5

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

Publications for Duarte Variant Galactosemia

Articles related to Duarte Variant Galactosemia:

(show all 14)
# Title Authors Year
1
Answering a Question Older Than Most Pediatricians: What to Do About Duarte Variant Galactosemia. ( 30593448 )
2018
2
Developmental Outcomes in Duarte Galactosemia. ( 30593450 )
2018
3
Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study. ( 25681083 )
2015
4
Ovarian function in Duarte galactosemia. ( 21719007 )
2011
5
Duarte galactosemia: how sweet is it? ( 20489130 )
2010
6
Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate. ( 20489133 )
2010
7
Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary. ( 20213376 )
2010
8
Long-term speech and language developmental issues among children with Duarte galactosemia. ( 19904210 )
2009
9
Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype. ( 15670721 )
2005
10
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. ( 9222760 )
1997
11
A common mutation associated with the Duarte galactosemia allele. ( 8198125 )
1994
12
Duarte Variant Galactosemia ( 25473725 )
1993
13
Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies. ( 632977 )
1978
14
Duarte variant-galactosemia heterozygote. Repository identification No. GM-1996. ( 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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72 TGDB
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75 UMLS via Orphanet
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