galactosemia

Galactosemia is a rare genetic disorder that affects the body's ability to break down a simple sugar called galactose, which is present in milk and other dairy products [1]. This condition prevents the body from converting galactose into glucose, a vital source of energy for the body [2].

There are several types of galactosemia, but they all share the same underlying problem: the inability to process galactose due to a deficiency or absence of a specific enzyme required for its breakdown [3]. This can lead to a range of symptoms and complications, including:

• Failure to thrive in infants
• Vomiting and diarrhea
• Jaundice (yellowing of the skin and eyes)
• Seizures and other neurological problems
• Increased risk of infections

Galactosemia is typically diagnosed shortly after birth, when babies are screened for the condition as part of routine newborn testing [4]. Early diagnosis and treatment can help manage symptoms and prevent long-term complications.

It's worth noting that galactosemia is a rare condition, affecting only about 1 in 50,000 to 1 in 100,000 births worldwide [5]. However, for those affected, it can have significant implications for their health and well-being.

Galactosemia is a genetic disorder that affects how the body processes a simple sugar called galactose. The signs and symptoms of galactosemia can vary in severity, but they often include:

• Loss of appetite [4]
• Lethargy [3][4]
• Vomiting [3][4]
• Diarrhea [3][4]
• Severe weight loss [4]
• Weakness [4]
• Failure to gain weight and grow at a normal rate [5]

In infants, the symptoms of galactosemia may appear in the first few days or weeks after birth. If left untreated, the condition can lead to more severe complications, such as:

• Jaundice [9]
• Cataracts [3][9]
• Sepsis (infection) [9]

In some cases, galactosemia can also cause delayed development, kidney issues, liver problems, or intellectual disabilities. It's essential to note that every baby born in the United States is screened for galactosemia as part of newborn screening, and if symptoms are detected, a doctor will suggest further testing and treatment.

References: [3] November 20, 2023 - Yellowing of the skin, mucous ... fluid in the abdominal cavity (ascites) with abdominal swelling (edema) may also occur. Diarrhea, irritability, lethargy and a bacterial infection may also be early signs of galactosemia.... [4] Aug 25, 2022 — What are the signs and symptoms of galactosemia? · Loss of appetite. · Lethargy. · Vomiting. · Diarrhea. · Severe weight loss. · Weakness. · Failure to gain weight and grow at a normal rate. [5] Every state in the United States has or has access to a newborn screening program and is mandated by law to screen for galactosemia. Initial signs usually present in the first few weeks of life and include refusal to feed, vomiting, lethargy, jaundice, cataracts, and sepsis (infection). [9] Every state in the United States has or has access to a newborn screening program and is mandated by law to screen for galactosemia. Initial signs usually present in the first few weeks of life and include refusal to feed, vomiting, lethargy, jaundice, cataracts, and sepsis (infection).

Galactosemia is a genetic disorder that affects the body's ability to break down lactose, a sugar found in milk and other dairy products. Diagnostic tests for galactosemia are crucial in identifying the condition early on, especially in newborns.

Types of Diagnostic Tests

There are several diagnostic tests used to detect galactosemia:

• Galactose-1-phosphate uridyltransferase (GALT) test: This blood test measures the level of GALT enzyme in the body. A low level of this enzyme indicates a deficiency, which can lead to galactosemia [3].
• Galactose-1-phosphate concentration test: This test measures the level of galactose-1-phosphate in red blood cells. Elevated levels indicate galactosemia [2].
• Urinary galactitol test: This test detects the presence of galactitol, a sugar that accumulates in the urine when galactosemia is present [5].

Newborn Screening

In many countries, newborn screening programs include a test for galactosemia. This involves pricking the baby's heel to collect a small blood sample, which is then tested for high levels of galactose and low GALT enzyme activity [6][7]. If the results indicate galactosemia, further testing can be done to confirm the diagnosis.

Genetic Testing

In families with a history of galactosemia, genetic testing can be performed to identify carriers of the disease. This involves analyzing DNA samples from family members to determine if they carry the mutated gene responsible for galactosemia [8].

Other Diagnostic Tests

Additional tests, such as testing the urine for reducing substances, can also be informative in diagnosing classic galactosemia [9].

It's essential to note that a diagnosis of galactosemia should only be made by a qualified healthcare professional after reviewing the results of these diagnostic tests.

References:

[1] Sep 27, 2024 — A galactosemia test is used to help diagnose galactosemia in a baby. It may also help identify whether it is a GALT, GALK, or GALE deficiency. [2] Mar 27, 2024 — Following a diagnosis of classic galactosemia, monitoring typically involves testing for galactose-1-phosphate concentrations in red blood cells ... [3] Oct 13, 2022 — Galactose-1-phosphate uridyltransferase is a blood test that measures the level of a substance called GALT, which helps break down milk sugars ... [4] Preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening, and follow-up of abnormal newborn screening results. [5] by M Pasquali · 2018 · Cited by 53 — In such cases, alternative testing can be used to confirm or exclude a diagnosis of galactosemia, such as blood Gal-1-P, urinary galactitol, or ... [6] This test is part of screening done on all newborns. It looks for high levels of galactose and low galactose-1 phosphate uridyltransferase (GALT) in your ... [7] Aug 25, 2022 — The screening is done by pricking your baby's heel and drawing a little blood, usually about 24 hours after they are born. If your child has ... [8] A galactosemia test is usually done to determine whether a newborn has the disease. In a family with a member who has galactosemia, a genetic test can be done ... [9] by IB Tișa · 2023 · Cited by 18 — Several tests can be used to diagnose classic galactosemia. Testing the urine for the presence of reducing substances can be informative.

Galactosemia is a rare genetic disorder that affects the body's ability to metabolize galactose, a sugar found in milk and other dairy products. While there is no cure for galactosemia, various treatments can help manage the condition.

Current Treatments

The only known way to treat galactosemia is to eliminate galactose from your diet [7]. This usually means avoiding foods that contain lactose and galactose, such as milk, cheese, and other dairy products. A physician and a dietitian who specializes in metabolic disorders can help develop a personalized meal plan to ensure adequate nutrition while minimizing galactose intake [8].

Emerging Therapies

Recent studies have explored the potential of arginine supplementation as a therapeutic approach for classic galactosemia [1]. However, more research is needed to confirm its effectiveness.

A more promising development in the treatment of galactosemia is Govorestat, a potent and selective agent being developed as an oral therapy. Govorestat has received Orphan Medicinal Product Designation from the European Medicines Agency (EMA) for both Galactosemia and SORD Deficiency [3][4]. Additionally, it has received Orphan Drug Designation from the U.S. Food and Drug Administration (FDA) for the treatment of Galactosemia, PMM2- associated [5].

Govorestat demonstrated clinical benefits in the ACTION-Galactosemia Kids study, reducing plasma galactitol levels and improving outcomes [6]. These findings suggest that Govorestat may offer a new hope for treating galactosemia.

References

[1] B Delnoy · 2021 · Cited by 34 — Arginine supplementation, known for its effect as an aggregation inhibitor [82] has been studied as a potential therapeutic approach for classic galactosemia. [3] Feb 28, 2024 — Govorestat for the treatment of Galactosemia has received Orphan Medicinal Product Designation from the European Medicines Agency (EMA) and ... [4] Feb 28, 2024 — Govorestat for the treatment of Galactosemia has received Orphan Medicinal Product Designation from the European Medicines Agency (EMA) and ... [5] 3 days ago — Govorestat has also received Orphan Drug Designation from the U.S. Food and Drug Administration (FDA) for the treatment of Galactosemia, PMM2- ... [6] 3 days ago — Govorestat demonstrated clinical benefits in the ACTION-Galactosemia Kids study, reducing plasma galactitol levels and improving outcomes. [7] Aug 25, 2022 — The only known way to treat galactosemia is to eliminate galactose from your diet. Galactose is a component of lactose, so this usually means ... [8] The only treatment for galactosemia is avoiding foods that contain lactose and galactose. A physician and a dietitian who specializes in metabolic disorders can ...

Differential Diagnoses of Galactosemia

Galactosemia, a genetic disorder caused by the deficiency of an enzyme called galactose-1-phosphate uridylyltransferase (GALT), can be challenging to diagnose due to its similarity with other conditions. The differential diagnoses for galactosemia include:

• Galactose epimerase deficiency: This is another type of galactosemia caused by the deficiency of an enzyme called galactose epimerase. It presents with similar symptoms as classic galactosemia, including liver dysfunction and cataracts [1].
• Other diseases causing acute liver disease in the neonate: Conditions such as sepsis, congenital infections, and metabolic disorders can present with similar symptoms to galactosemia, making differential diagnosis crucial [9].

Key Diagnostic Features

To diagnose galactosemia accurately, it is essential to consider the following key features:

• Elevated erythrocyte GALT activity: This is a critical diagnostic marker for classic galactosemia and clinical variant galactosemia [3].
• Other tests: Prenatal diagnosis, enzyme analysis of red blood cells, and genetic testing can also aid in the diagnosis of galactosemia [2].

References

[1] Context 6: Galactose epimerase deficiency is another type of galactosemia that presents with similar symptoms as classic galactosemia.

[2] Context 2: Prenatal diagnosis, enzyme analysis of red blood cells, and genetic testing can aid in the diagnosis of galactosemia.

[3] Context 3: Elevated erythrocyte GALT activity is a critical diagnostic marker for classic galactosemia and clinical variant galactosemia.

[9] Context 9: Differential diagnoses include galactose epimerase deficiency and other diseases causing acute liver disease in the neonate.