Galactose-1-phosphate uridylyltransferase deficiency: Difference between revisions
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[[File:Beta-D-Galactopyranose.svg| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Galactose-1-phosphate uridylyltransferase deficiency | |||
| image = [[File:Beta-D-Galactopyranose.svg|150px]] | |||
| caption = Structure of [[galactose]], a sugar involved in the condition | |||
| synonyms = [[Classic galactosemia]], [[GALT deficiency]] | |||
| pronounce = | |||
| specialty = [[Metabolic disorders]] | |||
| symptoms = [[Jaundice]], [[hepatomegaly]], [[failure to thrive]], [[cataracts]], [[intellectual disability]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] in the [[GALT gene]] | |||
| risks = [[Consanguinity]], [[family history]] | |||
| diagnosis = [[Newborn screening]], [[enzyme assay]], [[genetic testing]] | |||
| differential = [[Galactokinase deficiency]], [[UDP-galactose-4-epimerase deficiency]] | |||
| prevention = [[Dietary restriction of galactose]] | |||
| treatment = [[Galactose-free diet]] | |||
| medication = | |||
| prognosis = Variable, depends on early diagnosis and management | |||
| frequency = 1 in 30,000 to 60,000 live births | |||
| deaths = Rare with treatment | |||
}} | |||
[[File:Galactose metabolism.png|left|thumb|Galactose metabolism]] [[File:Galactose Metabolism GALT.png|left|thumb|Galactose Metabolism GALT.png]] [[File:autorecessive.svg|left|thumb|autorecessive|right]] '''Galactose-1-phosphate uridylyltransferase deficiency''' | |||
'''Galactose-1-phosphate uridylyltransferase deficiency''' ('''GALT deficiency''') is a [[genetic disorder]] that affects the body's ability to process the simple sugar [[galactose]]. It is a type of [[galactosemia]], specifically known as [[classic galactosemia]] or [[Type I galactosemia]]. This condition is caused by mutations in the [[GALT gene]], which provides instructions for making the enzyme [[galactose-1-phosphate uridylyltransferase]]. | '''Galactose-1-phosphate uridylyltransferase deficiency''' ('''GALT deficiency''') is a [[genetic disorder]] that affects the body's ability to process the simple sugar [[galactose]]. It is a type of [[galactosemia]], specifically known as [[classic galactosemia]] or [[Type I galactosemia]]. This condition is caused by mutations in the [[GALT gene]], which provides instructions for making the enzyme [[galactose-1-phosphate uridylyltransferase]]. | ||
==Pathophysiology== | ==Pathophysiology== | ||
Latest revision as of 20:03, 7 April 2025
Editor-In-Chief: Prab R Tumpati, MD
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| Galactose-1-phosphate uridylyltransferase deficiency | |
|---|---|
| |
| Synonyms | Classic galactosemia, GALT deficiency |
| Pronounce | |
| Specialty | Metabolic disorders |
| Symptoms | Jaundice, hepatomegaly, failure to thrive, cataracts, intellectual disability |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the GALT gene |
| Risks | Consanguinity, family history |
| Diagnosis | Newborn screening, enzyme assay, genetic testing |
| Differential diagnosis | Galactokinase deficiency, UDP-galactose-4-epimerase deficiency |
| Prevention | Dietary restriction of galactose |
| Treatment | Galactose-free diet |
| Medication | |
| Prognosis | Variable, depends on early diagnosis and management |
| Frequency | 1 in 30,000 to 60,000 live births |
| Deaths | Rare with treatment |
Galactose-1-phosphate uridylyltransferase deficiency
Galactose-1-phosphate uridylyltransferase deficiency (GALT deficiency) is a genetic disorder that affects the body's ability to process the simple sugar galactose. It is a type of galactosemia, specifically known as classic galactosemia or Type I galactosemia. This condition is caused by mutations in the GALT gene, which provides instructions for making the enzyme galactose-1-phosphate uridylyltransferase.
Pathophysiology[edit]
In individuals with GALT deficiency, the enzyme galactose-1-phosphate uridylyltransferase is either absent or not functioning properly. This enzyme is crucial for the conversion of galactose-1-phosphate into UDP-galactose and glucose-1-phosphate. As a result, galactose-1-phosphate accumulates in various tissues, leading to toxic effects and the symptoms associated with the disorder.
Symptoms[edit]
Symptoms of GALT deficiency typically appear shortly after birth and can include:
- Jaundice
- Hepatomegaly (enlarged liver)
- Vomiting
- Poor feeding
- Failure to thrive
- Lethargy
- Sepsis
- Cataracts
- Developmental delay
Diagnosis[edit]
Diagnosis of GALT deficiency is usually made through newborn screening programs that test for elevated levels of galactose or galactose-1-phosphate in the blood. Confirmatory testing involves measuring the activity of the galactose-1-phosphate uridylyltransferase enzyme in red blood cells or identifying mutations in the GALT gene through genetic testing.
Treatment[edit]
The primary treatment for GALT deficiency is a strict galactose-free diet, which involves eliminating lactose and galactose from the diet. This dietary restriction helps prevent the accumulation of toxic substances and alleviates symptoms. Lifelong adherence to the diet is necessary to avoid complications.
Prognosis[edit]
With early diagnosis and strict dietary management, individuals with GALT deficiency can lead relatively normal lives. However, some may still experience long-term complications such as speech delays, learning disabilities, and ovarian failure in females.
See also[edit]
References[edit]
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External links[edit]
