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Galactokinase Deficiency

Disease Details

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Description: Galactokinase deficiency is a rare metabolic disorder affecting the body's ability to process the sugar galactose, leading to complications such as cataracts.
Type: Galactokinase deficiency is an autosomal recessive disorder.
Signs And Symptoms: Causes the elevation of galactose in blood (galactosemia) and urine (galactosuria).
When the patient consumes galactose via their diet, it will result in galactitol accumulation. Which can result in cataracts.
Prognosis: Galactokinase deficiency, also known as galactosemia type II, generally has a favorable prognosis when managed appropriately. Early detection and dietary management, specifically by restricting galactose intake, can prevent or mitigate complications such as cataract formation. Early and consistent treatment usually results in a normal life expectancy and quality of life. Regular follow-ups and monitoring for any signs of complications are essential.
Onset: Galactokinase deficiency, also known as Galactosemia type II, typically presents in infancy. Symptoms often appear soon after birth as newborns begin to ingest lactose through breast milk or formula. Key manifestations can include the development of cataracts within the first few weeks if untreated.
Prevalence: Galactokinase deficiency is a rare metabolic disorder. Its exact prevalence is not well-documented, but it is estimated to be fewer than 1 in 100,000 individuals worldwide. The condition is more commonly reported in specific populations or regions, such as in Roma populations in Europe.
Epidemiology: Galactokinase deficiency is a rare metabolic disorder with a low prevalence. It is estimated to occur in approximately 1 in 100,000 to 1 in 1,000,000 live births worldwide. The condition is more prevalent in certain populations, such as the Romani people, where the incidence is higher.
Intractability: Galactokinase deficiency, a type of galactosemia, is generally not considered intractable. It can be managed effectively with dietary modifications, specifically by eliminating galactose and lactose from the diet. Early diagnosis and adherence to dietary restrictions can prevent or minimize complications such as cataracts.
Disease Severity: Galactokinase deficiency, also known as galactosemia type II, is generally considered to be less severe compared to other forms of galactosemia. The primary symptom is the development of cataracts in infancy due to the accumulation of galactitol in the lens of the eye. Unlike classic galactosemia (type I), it does not typically cause severe liver damage, intellectual disability, or other systemic symptoms if detected and managed early through dietary restrictions.
Healthcare Professionals: Disease Ontology ID - DOID:14695
Pathophysiology: Pathophysiology:
Galactokinase deficiency is an inherited metabolic disorder that impairs the body's ability to process galactose, a sugar found in milk and other dairy products. This condition is characterized by a deficiency of the enzyme galactokinase, which is necessary for converting galactose into galactose-1-phosphate. The unmetabolized galactose accumulates in the blood and tissues, leading to an increased production of galactitol. Elevated galactitol levels can cause osmotic imbalances in cells and tissues, particularly the lens of the eye, leading to the development of cataracts, which is the most common symptom of this condition. Early diagnosis and dietary management to restrict galactose intake can help prevent cataract formation and other complications.
Carrier Status: For galactokinase deficiency, a carrier typically has one normal allele and one mutated allele of the GALK1 gene but does not show symptoms of the disease. The condition is inherited in an autosomal recessive manner, meaning that carriers have a 50% chance of passing the mutated gene to their offspring. If two carriers have a child, there's a 25% chance the child will have galactokinase deficiency, a 50% chance the child will be a carrier, and a 25% chance the child will have two normal alleles.
Mechanism: Galactokinase deficiency, also known as Galactosemia type II, is a genetic disorder affecting the metabolism of galactose, a type of sugar derived from lactose.

Mechanism:
- The disorder arises from mutations in the GALK1 gene, which encodes the enzyme galactokinase.
- Galactokinase plays a critical role in galactose metabolism by phosphorylating galactose to galactose-1-phosphate, an essential step for further metabolism.

Molecular mechanisms:
- Mutations in the GALK1 gene lead to reduced or absent activity of galactokinase enzyme.
- As a result, galactose cannot be effectively metabolized and accumulates in the blood and tissues.
- This accumulation of galactose can be converted to galactitol by aldose reductase, especially in the lens of the eye, leading to the development of cataracts.
- The build-up of galactose and galactitol can cause other complications but typically does not result in the severe systemic issues seen with other forms of galactosemia.

Early diagnosis and dietary management, particularly reducing galactose intake, are crucial to managing the condition and preventing complications such as cataracts.
Treatment: Medical care

Treatment may be provided on an outpatient basis.
Cataracts that do not regress or disappear with therapy may require hospitalization for surgical removal.Surgical care

Cataracts may require surgical removal.Consultations

Biochemical geneticist
Nutritionist
OphthalmologistDiet

Diet is the foundation of therapy. Elimination of lactose and galactose sources suffices for definitive therapy.Activity

No restriction is necessary.
Compassionate Use Treatment: Galactokinase deficiency, a type of galactosemia, is primarily treated by dietary management to avoid galactose and lactose. While there are no widely recognized compassionate use treatments specific to this disorder, some off-label or experimental approaches might include:

1. **Nutritional Supplements:** Administering supplements to correct any deficiencies arising from dietary restrictions.

2. **Gene Therapy:** Research into gene therapy is ongoing, with the aim of correcting the underlying genetic defect, but this remains experimental.

3. **Pharmacological Chaperones:** Drugs that stabilize the mutated enzyme might be beneficial, though this approach is still under investigation.

4. **Enzyme Replacement Therapy (ERT):** Potential use of synthetic enzymes to compensate for the deficient galactokinase activity is also being explored experimentally.

It is essential to consult a healthcare provider for the most appropriate and current treatment options for galactokinase deficiency.
Lifestyle Recommendations: For galactokinase deficiency, lifestyle recommendations include:

1. **Dietary Management**: Adhering to a diet that restricts lactose and galactose is crucial. This means avoiding dairy products and other foods containing these sugars.

2. **Regular Monitoring**: Regular follow-ups with a healthcare provider to monitor galactose levels and assess liver function and eye health.

3. **Nutritional Guidance**: Consulting with a dietitian can help in planning meals to avoid nutritional deficiencies and ensure balanced nutrition.

4. **Education**: Educating family members and caregivers about the condition and dietary restrictions to prevent accidental consumption of prohibited foods.

5. **Emergency Planning**: Having a plan in place for managing accidental ingestion of galactose, including knowing when to seek medical attention.

These measures can help manage the condition and prevent complications like cataracts and liver damage. Accurate diagnosis and early intervention are key to effective management.
Medication: For galactokinase deficiency, there is no specific medication for the condition itself. Treatment primarily involves dietary management to restrict galactose intake, which prevents the accumulation of galactose and its metabolites that cause symptoms. This typically includes the avoidance of lactose-containing foods and other sources of galactose.
Repurposable Drugs: As of now, there are no well-established repurposable drugs specifically identified for galactokinase deficiency. The primary treatment generally involves dietary restrictions to limit galactose intake, thereby preventing the accumulation of galactitol and related complications.
Metabolites: In galactokinase deficiency, the primary metabolite that accumulates is galactose. This can lead to elevated levels of galactitol as well, a substance produced from galactose via an alternative metabolic pathway. This accumulation can cause complications such as cataracts.
Nutraceuticals: For galactokinase deficiency, nutraceuticals are not widely recognized as a standard form of treatment. The primary approach to managing this condition typically involves dietary modifications, particularly restricting galactose intake to prevent the accumulation of galactose and its metabolites. There is limited clinical evidence supporting the use of nutraceuticals specifically for galactokinase deficiency. If considering any supplement, it's critical to consult with a healthcare professional.
Peptides: Peptides are chains of amino acids that play key roles in various biological functions. In the context of galactokinase deficiency, a disorder affecting galactose metabolism, specific peptides do not play a direct role in the primary condition. Instead, the disorder results from mutations in the GALK1 gene, impacting the function of the galactokinase enzyme.

"NAN" might refer to Nurses' Automated Notes, but in this context, it seems unrelated. If you need information on a different aspect related to galactokinase deficiency, please clarify.